Prevalence of rare diseases: Bibliographic data

Size: px
Start display at page:

Download "Prevalence of rare diseases: Bibliographic data"

Transcription

1 Prevalence distribution of rare diseases diseases May November (/100000) Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of disease or group of diseases

2 Methodology A systematic survey of the literature is being performed in order to provide an estimate of the of rare diseases in Europe. An updated report will be regularly and will replace the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made available. Search strategy The search strategy is carried out using several data sources: - Websites: Orphanet, e-medicine, GeneClinics, EMA and OMIM ; - Registries, RARECARE - Medline is consulted using the search algorithm: «Disease names» AND Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/ abstract] OR Epidemiology[Title/abstract] ; - Medical books, grey literature and reports from experts are also important sources of data. Updated Data New information from available data sources: EMA, new scientific publications, grey literature, expert opinion. Limitation of the study The exact rate of each rare disease is difficult to assess from the available data sources. There is a low level of consistency between studies, a poor documentation of methods used, confusion between incidence and, and/or confusion between incidence at birth and life-long incidence. The validity of the studies is taken for granted and not assessed. It is likely that there is an overestimation for most diseases as the few surveys are usually done in regions of higher and are usually based on hospital data. Therefore, these estimates are an indication of the assumed but may not be accurate. Collected data Prevalence values provided are the mean of the highest and lowest values collected. When is not documented we calculate it using incidence: - For congenital diseases with birth-onset, = incidence at birth x (patient life expectancy/ general population life expectancy) ; - For the other rare diseases, = incidence x rare disease mean duration ; When no or incidence data are available, the number of or reported in the literature is provided. The * sign indicates a life time. The ** sign indicates a birth. It was used when the birth was the only data available and a estimate was not possible because of a large variability in the duration of the disease. NB: Life expectancy of the French population (81 years) is used as the general population life expectancy. For any questions or comments, please contact us: Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

3 Prevalence or reported number of listed in alphabetical order of disease or group of diseases or q14 microdeletion q13.3 microdeletion q24 microdeletion p36 deletion 15** q22.13q22.2 microdeletion q11.2 deletion 5.6** methylbutyryl-CoA dehydrogenase < p21 microdeletion q24 microdeletion q32q33 microdeletion < q37 microdeletion C hydroxy-3-methylglutaryl-CoA synthase M methylglutaconic aciduria ,XX disorder of sex development - skeletal anomalies ,XX ovotesticular disorder of sex development ,XY disorder of sex development - adrenal insufficiency due to CYP11A ,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase ,XY gonadal dysgenesis - motor and sensory neuropathy ,XXYY 1.9** 2 > hydroxybutyric aciduria oxoprolinase q terminal deletion q16 deletion q22.1 microdeletion Aarskog-Scott 0.4** 916 Aase-Smith < Ablepharon macrostomia Abruzzo-Erickson Absence of fingerprints - congenital milia Absent thumb - short stature - immuno Acanthamoeba keratitis Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement Acatalasemia Aceruloplasminemia 0.1 or 929 Achalasia - microcephaly Acheiropodia < Achondrogenesis 2.8** 15 Achondroplasia 2.6** Achromatopsia Ackerman Acquired generalized lipodystrophy > Acquired hemophilia Acquired hypertrichosis lanuginosa Acquired Von Willebrand Acrocallosal Acro-cardio-facial Acrocraniofacial dysostosis 2 37 Acrodermatitis enteropathica Acrofacial dysostosis, Catania Acrofacial dysostosis, Kennedy-Teebi Acrofacial dysostosis, Palagonia Acrofacial dysostosis, Rodríguez < Acro-fronto-facio-nasal dysostosis Acromegaloid facial appearance < Acromegaly Acromegaly - cutis verticis gyrata - corneal leukoma Acromelanosis < Acromesomelic dysplasia, Brahimi-Bacha Acromesomelic dysplasia, Hunter-Thomson Acromesomelic dysplasia, Maroteaux Acromicric dysplasia < Acroosteolysis dominant Acro-pectoral Acro-pectoro-renal dysplasia Acropectorovertebral dysplasia < Acrorenal Acro-renal-mandibular Acro-renal-ocular < 20 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

4 or Action myoclonus - renal failure Acute bilateral depigmentation of the iris Acute inflammatory demyelinating polyradiculoneuropathy Acute intermittent porphyria Acute interstitial pneumonia Acute liver failure Acute motor axonal neuropathy Acute motor-sensory axonal neuropathy Acute myeloid leukemia 11* Adamantinoma 0.11* 2952 Adducted thumbs - arthrogryposis, Christian 45 Adenosine monophosphate deaminase 3 > Adenylosuccinate lyase Adrenocortical carcinoma Adult familial nephronophthisis - spastic quadriparesia Adult intestinal botulism Adult Still's disease ADULT Adult-onset proximal spinal muscular atrophy, autosomal dominant Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia Aggressive systemic mastocytosis Agnathia - holoprosencephaly - situs inversus Aicardi 1** 51 Aicardi-Goutières Alagille 0.4** Åland Islands eye disease > Alar cartilages hypoplasia - coloboma - telecanthus 53 Albers-Schönberg osteopetrosis Albinism-deafness ALDH18A1-related De Barsy Alexander disease ALG12-CDG ALG1-CDG ALG2-CDG 1 case ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG Al-Gazali-Dattani 3 56 Alkaptonuria 0.5 or 59 Allan-Herndon-Dudley Alopecia - contractures - dwarfism - intellectual disability 1008 Alopecia - epilepsy - pyorrhea - intellectual disability 700 Alopecia totalis Alopecia universalis Alpers 0.7** 60 Alpha-1-antitrypsin Alpha-mannosidosis 0.2** Alpha-N-acetylgalactosaminidase < Alpha-thalassemia - X-linked intellectual disability 63 Alport Alternating hemiplegia of childhood 0.9** > Alveolar echinococcosis < Amaurosis - hypertrichosis Amelo-cerebro-hypohidrotic Amelogenesis imperfecta and gingival hyperplasia Aminopterin/methotrexate embryofetopathy Amniotic bands 4** 69 Amyloidosis Amyotrophic lateral sclerosis Anal fistula Anaplastic large cell lymphoma Anaplastic thyroid carcinoma ANE 5 72 Angelman Angel-shaped phalango-epiphyseal dysplasia Angio-osteohypertrophic 0.8** Anhidrotic ectodermal dysplasia - immuno - osteopetrosis - lymphedema Aniridia - absent patella Aniridia - cerebellar ataxia - intellectual disability 1067 Aniridia - ptosis - intellectual disability - familial obesity 1064 Aniridia - renal agenesis - psychomotor retardation > Aniridia-intellectual disability Anisakiasis Ankyloblepharon filiforme - imperforate anus Ankylosing vertebral hyperostosis with tylosis Annular pancreas 1.8** 1094 Anonychia - microcephaly 5 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

5 or Anonychia with flexural pigmentation Anophthalmia - heart and pulmonary anomalies - intellectual disability 1102 Anophthalmia - hypothalamo-pituitary insufficiency 1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies Anophthalmia plus Anophthalmia/microphthalmia - esophageal atresia Antecubital pterygium Antley-Bixler Antley-Bixler with genital anomaly and disorder of steroidogenesis 1110 Aortic arch anomaly - peculiar facies - intellectual disability 2299 Aortic arch interruption 0.3** Aortic dilatation - joint hypermobility - arterial tortuosity < Aorto-ventricular tunnel Apert Aphalangy - hemivertebrae - urogenitalintestinal dysgenesis Aphalangy - syndactyly - microcephaly 1117 Aplasia cutis - myopia Aplasia cutis congenita - intestinal lymphangiectasia Apnea of prematurity Arachnodactyly - abnormal ossification - intellectual disability 1130 Arachnodactyly - intellectual disability - dysmorphism AREDYLD Arginine:glycine amidinotransferase 9 23 Argininosuccinic aciduria Aromatase Arrhinia Arrhinia - choanal atresia - microphthalmia Arrhythmogenic right ventricular dysplasia Arterial dissection - lentiginosis Arterial tortuosity < Arthrogryposis - hyperkeratosis, lethal form Arthrogryposis - renal dysfunction - cholestasis 1037 Arthrogryposis multiplex congenita 5.7** 1150 Arthrogryposis multiplex congenita - whistling face 1144 Arthrogryposis-like hand anomaly - sensorineural deafness < Ascher 50 or Astley-Kendall dysplasia 5 94 Astrocytoma Ataxia-deafness-retardation Ataxia-telangiectasia Atelosteogenesis I Atelosteogenesis II Atelosteogenesis III < Athabaskan brainstem dysgenesis Atherosclerosis - deafness - diabetes - epilepsy - nephropathy Athyreosis Atkin-Flaitz Atopic keratoconjunctivitis Atresia of small intestine Atrial septal defect - atrioventricular conduction defects Atrial tachyarrhythmia with short PR interval Atypical coarctation of aorta 0.17** 2134 Atypical hemolytic uremic Atypical Rett Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculoocular anomalies - cleft lip Auriculoosteodysplasia Autism - facial port-wine stain Autoimmune lymphoproliferative > Autosomal dominant cerebellar ataxia Autosomal dominant Charcot-Marie-Tooth disease 2F Autosomal dominant Charcot-Marie-Tooth disease 2G Autosomal dominant Charcot-Marie-Tooth disease 2K Autosomal dominant Charcot-Marie-Tooth disease 2L Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 1810 Autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant hypophosphatemic rickets Autosomal dominant intermediate Charcot- Marie-Tooth disease E 503 Autosomal dominant Larsen 0.4** 266 Autosomal dominant limb-girdle muscular dystrophy 1A 264 Autosomal dominant limb-girdle muscular dystrophy 1B < * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

6 34516 Autosomal dominant limb-girdle muscular dystrophy 1D Autosomal dominant limb-girdle muscular dystrophy 1E Autosomal dominant limb-girdle muscular dystrophy 1F Autosomal dominant limb-girdle muscular dystrophy 1G Autosomal dominant multiple pterygium Autosomal dominant optic atrophy and cataract or Autosomal dominant osteopetrosis Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant polycystic kidney disease 1 with tuberous sclerosis Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant Robinow Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia 38 < 10 < 10 < 10 < Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia 8 < Autosomal dominant spastic paraplegia Autosomal recessive amelia Autosomal recessive ataxia, Beauce Autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia - blindness - deafness Autosomal recessive cerebellar ataxia - saccadic intrusion 267 Autosomal recessive limb girdle muscular dystrophy 2A 268 Autosomal recessive limb-girdle muscular dystrophy 2B 353 Autosomal recessive limb-girdle muscular dystrophy 2C , Autosomal recessive limb-girdle muscular dystrophy 2E 219 Autosomal recessive limb-girdle muscular dystrophy 2F Autosomal recessive limb-girdle muscular dystrophy 2G Autosomal recessive limb-girdle muscular dystrophy 2I Autosomal recessive limb-girdle muscular dystrophy 2L Autosomal recessive limb-girdle muscular dystrophy 2M Autosomal recessive lower motor neuron disease with childhood onset 667 Autosomal recessive malignant osteopetrosis 0.75** 0, or Autosomal recessive omodysplasia Autosomal recessive polycystic kidney disease Autosomal recessive Robinow < Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia 15 < Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Axenfeld-Rieger Axial spondylometaphyseal dysplasia B4GALT1-CDG 1 case Bacterial toxic-shock Ballard Bamforth Bangstad Banki 2995 Baraitser-Winter Barber-Say Bardet-Biedl Barth Bartsocas-Papas Bazex Bazex-Dupré-Christol B-cell chronic lymphocytic leukemia 27 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

7 116 Beckwith-Wiedemann 2.3** or 1237 Beemer-Ertbruggen Behçet disease Bencze Benign exophthalmos Benign familial neonatal-infantile seizures Benign familial nocturnal alternating hemiplegia of childhood < Benign paroxysmal torticollis of infancy Berardinelli-Seip congenital lipodystrophy Bernard-Soulier Beta-mannosidosis 0.14** 848 Beta-thalassemia Beta-ureidopropionase Bethlem myopathy Bilateral microtia - deafness - cleft palate Bilateral renal agenesis 2** 1980 Bilateral striopallidodentate calcinosis < Biliary atresia 2.9** 122 Birt-Hogg-Dubé Björnstad Blackfan-Diamond anemia 0.67** Bladder exstrophy Bleeding diathesis due to a collagen receptor defect < Blepharo-cheilo-odontic > Blepharofacioskeletal Blepharonasofacial malformation Blepharophimosis - ptosis - esotropia - syndactyly - short stature 3047 Blepharophimosis-intellectual disability, SBBYS 6 < Blepharoptosis - myopia - ectopia lentis Blindness - scoliosis - arachnodactyly Bloom Blue cone monochromatism Blue rubber bleb nevus > Body skin hyperlaxity due to vitamin K-dependent coagulation factor Bohring-Opitz < Bone dysplasia, lethal Holmgren Bonnemann-Meinecke-Reich Böök Boomerang dysplasia Bosley-Salih-Alorainy Botulism Boutonneuse fever 17 or 1276 Brachydactyly - arterial hypertension > Brachydactyly - long thumb Brachydactyly - nystagmus - cerebellar ataxia 1278 Brachydactyly - preaxial hallux varus Brachydactyly A Brachydactyly A Brachymorphism - onychodysplasia - dysphalangism 1295 Brachytelephalangy - dysmorphism - Kallmann Braddock Bradyopsia Brain calcification, Rajab Brain demyelination due to methionine adenosyltransferase Brain malformation - congenital heart disease - postaxial polydactyly Brain stem tumor Brain-lung-thyroid < Branchiogenic deafness Branchio-oculo-facial < Branchio-skeleto-genital BRESEK Bronchopulmonary dysplasia Bruck < Brugada Budd-Chiari Buerger disease Bullous dystrophy, macular Bullous pemphigoid Bullous systemic lupus erythematosus Buschke-Ollendorff Cabezas 135 CACH CADASIL Calciphylaxis Calvarial doughnut lesions - bone fragility CAMOS Campomelia, Cumming Campomelic dysplasia 0.33** 1319 Camptobrachydactyly 1321 Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia 3 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

8 85164 Camptodactyly - tall stature - scoliosis - hearing loss or Camptodactyly - taurinuria Camptodactyly, Guadalajara Camptodactyly, Guadalajara Camptodactyly-arthropathy-coxa-varapericarditis < Camurati-Engelmann disease > Cantrell pentalogy 0.55** Cap myopathy < Cap polyposis Carbamoylphosphate synthetase Cardiac anomalies - heterotaxy Cardiocranial, Pfeiffer < Cardiofaciocutaneous Cardiomyopathy - cataract - hip spine disease Cardiomyopathy - hypotonia - lactic acidosis Cardiomyopathy - renal anomalies Cardiospondylocarpofacial Carey-Fineman-Ziter < Carnevale Carney complex Carney triad Carnitine palmitoyl transferase II > Carnitine-acylcarnitine translocase Carnosinemia Caroli disease < Carpenter > Carpenter-Waziri Carpotarsal osteochondromatosis < Cataract - ataxia - deafness Cataract - deafness - hypogonadism Cataract - intellectual disability - hypogonadism < Cataract - nephropathy - encephalopathy Cataract-glaucoma Cataract-microcornea Catecholamine-producing tumor Catecholaminergic polymorphic ventricular tachycardia 1388 Catel-Manzke > Cat-eye Cat-scratch disease CEDNIK Celiac disease, epilepsy and cerebral calcification or Cenani-Lenz < Central areolar choroidal dystrophy Central bilateral macrogyria Central core disease Central nervous system calcification - deafness - tubular acidosis - anemia Central neurocytoma > Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebral arteriovenous malformation Cerebral gigantism - jaw cysts < Cerebro-costo-mandibular Cerebro-oculo-nasal Cerebroretinal vasculopathy Cerebrotendinous xanthomatosis Cervical hypertrichosis - peripheral neuropathy CHAND > Channelopathy-associated congenital insensitivity to pain Char Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2B Charcot-Marie-Tooth disease 2H Charcot-Marie-Tooth disease 4B Charcot-Marie-Tooth disease 4H Charcot-Marie-Tooth disease 4J Chédiak-Higashi CHILD Childhood apraxia of speech Childhood disintegrative disorder CHIME Choanal atresia 8.6** 1200 Choanal atresia - deafness - cardiac defects - dysmorphism Cholangiocarcinoma Cholestasis - lymphedema Cholestasis - pigmentary retinopathy - cleft palate 1422 Chondrodysplasia - disorder of sex development Chondrodysplasia, Blomstrand Chondrosarcoma Chordoma Choroidal atrophy - alopecia 2 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

9 180 Choroideremia 1.5 or 1435 Choroideremia - deafness - obesity Christianson < Chronic autoimmune hepatitis Chronic granulomatous disease 0.4** 396 Chronic hiccup Chronic inflammatory demyelinating polyneuropathy 521 Chronic myeloid leukemia Chronic thromboembolic pulmonary hypertension Chudley-Lowry-Hoar CINCA Circumscribed palmoplantar hypokeratosis Citrullinemia CLAPO Classical homocystinuria Cleft lip - retinopathy Cleft lip/palate - intestinal malrotation - cardiopathy 2015 Cleft palate - short stature - vertebral anomalies Cleft palate - stapes fixation - oligodontia Cleft palate-lateral synechia Cleidorhizomelic Cloacal exstrophy Cobb Cobblestone lissencephaly 1** 191 Cockayne CODAS Coffin-Lowry Coffin-Siris < COFS < COG7-CDG COG8-CDG Cogan Cohen Colchicine poisoning Cold-induced sweating Cole-Carpenter Collagenous colitis Coloboma of macula - brachydactyly B Colobomatous - microphthalmia - heart disease - hearing loss Combined of factor V and factor VIII Common variable immuno Complete atrioventricular canal 20** or Cone dystrophy with supernormal rod response Cone rod dystrophy Congenital absence/hypoplasia of fingers excluding thumb, unilateral 418 Congenital adrenal hyperplasia 10 < Congenital alveolar capillary dysplasia < Congenital analbuminemia < Congenital atransferrinemia Congenital bilateral absence of vas deferens Congenital bile acid synthesis defect Congenital bile acid synthesis defect Congenital brain dysgenesis due to glutamine synthetase Congenital bronchobiliary fistula Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy Congenital cataracts - facial dysmorphism - neuropathy 2140 Congenital diaphragmatic hernia 21.2** 137 Congenital disorder of glycosylation 1.5** 85 Congenital dyserythropoietic anemia Congenital enterocyte heparan sulfate Congenital erythropoietic porphyria > Congenital factor II Congenital factor V Congenital factor VII Congenital factor X Congenital factor XI Congenital factor XIII Congenital fibrinogen Congenital generalized hypertrichosis, Ambras Congenital hypogonadotropic hypogonadism Congenital hypothyroidism Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to transplacental passage of maternal TSHbinding inhibitory antibodies 2271 Congenital ichthyosis - microcephalus - tetraplegia 1229 Congenital intrauterine infection-like Congenital isolated hyperinsulinism > 30 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

10 Congenital isolated thyroxine-binding globulin or 1954 Congenital lethal erythroderma Congenital lethal myopathy, Compton-North Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital megacalycosis > Congenital muscular dystrophy Congenital muscular dystrophy due to LMNA mutation 258 Congenital muscular dystrophy 1A Congenital muscular dystrophy with integrin alpha Congenital muscular dystrophy, Ullrich Congenital myasthenic s Congenital myopathy Congenital osteogenesis imperfecta - microcephaly - cataracts Congenital pseudoarthrosis of clavicle > Congenital pulmonary lymphangiectasia > Congenital pulmonary valve stenosis 28.4** 290 Congenital rubella 0.29** Congenital sucrase-isomaltase Congenital toxoplasmosis 33** Congenitally corrected transposition of the great arteries 0.3** 2391 Congenitally short costocoracoid ligament 1484 Contractures - ectodermal dysplasia - cleft lip/ palate Cooks Cooper-Jabs Corneal anesthesia - deafness - intellectual disability Corneal dystrophy - perceptive deafness < Corneal-cerebellar Cornelia de Lange 1** Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis 1389 Cortical blindness - intellectual disability - polydactyly 278 Corticobasal degeneration Corticosteroid-sensitive aseptic abscesses Costello Cowden Coxoauricular 4 or 1509 Coxo-podo-patellar Craniodiaphyseal dysplasia < Craniodigital - intellectual disability Cranioectodermal dysplasia Craniofacial conodysplasia 1529 Craniofacial-deafness-hand Craniofrontonasal dysplasia - Poland anomaly Craniolenticulosutural dysplasia Craniometaphyseal dysplasia Cranio-osteoarthropathy Craniopharyngioma Craniorachischisis Craniorhiny Craniosynostosis - Dandy-Walker malformation - hydrocephalus 1535 Craniosynostosis - dysmorphism - brachydactyly Craniosynostosis - fibular aplasia Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis Craniosynostosis - intracranial calcifications Craniosynostosis, Boston Craniosynostosis, Philadelphia 1534 Craniosynostosis-radial aplasia, Imaizumi CREST Creutzfeldt-Jakob disease Crigler-Najjar 0.1** 1545 Crisponi < Criss-cross heart 0.8** 2930 Cronkhite-Canada Crouzon disease Cryptomicrotia - brachydactyly - excess fingertip arch 1549 Cryptosporidiosis Currarino triad Curry-Jones Cushing disease Cushing Cutaneous lupus erythematosus Cutaneous mastocytosis Cutaneous neuroendocrine carcinoma Cutaneous photosensitivity - lethal colitis Cutis gyrata - acanthosis nigricans - craniosynostosis 209 Cutis laxa 0.1** Cutis marmorata telangiectatica congenita Cutis verticis gyrata - intellectual disability 1.02 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

11 2686 Cyclic neutropenia 0.1 or 2674 Cyprus facial-neuromusculoskeletal 212 Cystathioninuria Cystic fibrosis Cystic hamartoma of lung and kidney < Cystic leukoencephalopathy without megalencephaly 213 Cystinosis 0.5** 214 Cystinuria 14 < Cystoid macular dystrophy Cytophagic histiocytic panniculitis < Czech dysplasia, metatarsal < Dacryocystitis - osteopoikilosis Dahlberg-Borer-Newcomer Dandy-Walker malformation - postaxial polydactyly 218 Darier disease De Hauwere Deaf blind hypopigmentation, Yemenite Deafness - enamel hypoplasia - nail defects Deafness - genital anomalies - metacarpal and metatarsal synostosis Deafness - intellectual disability, Martin-Probst Deafness - lymphedema - leukemia < Deafness - onychodystrophy < Deafness - vitiligo - achalasia Deafness with labyrinthine aplasia, microtia, and microdontia Deafness-infertility Dehydratase DEND Dent disease Dentatorubral pallidoluysian atrophy Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability Denys-Drash Dermatitis herpetiformis Dermato-cardio-skeletal, Borrone Dermatofibrosarcoma protuberans Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian Dermo-odonto dysplasia 14 or 1425 Desbuquois > Desmosterolosis Developmental delay - deafness, Hildebrand Developmental malformations - deafness - dystonia Diaphanospondylodysostosis < Diaphragmatic defect - limb - skull defect 628 Diastrophic dwarfism Diffuse cutaneous systemic sclerosis Diffuse large B-cell lymphoma Diffuse neonatal hemangiomatosis < Diffuse palmoplantar keratodermaacrocyanosis Digitorenocerebral < Digitotalar dysmorphism Dihydropteridine reductase > Dihydropyrimidinuria Dincsoy-Salih-Patel Dirofilariasis Disorder of bile acid synthesis Disorder of sex development - intellectual disability 1307 Distal limb deficiencies - micrognathia Distal monosomy 10q Distal monosomy 5q Distal monosomy 6p > Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement Distal myopathy with vocal cord weakness Distal symphalangism < Distal trisomy 10q Distal trisomy 6p DK1-CDG Donnai-Barrow Dopamine beta-hydroxylase Dopa-responsive dystonia Dopa-responsive dystonia due to sepiapterin reductase Double outlet left ventricle Double uterus - hemivagina - renal agenesis < DPAGT1-CDG 3 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

12 or DPM1-CDG Duane anomaly - myopathy - scoliosis Duane retraction Dubowitz 0.2** Duchenne muscular dystrophy Duodenal atresia Dursun Dyggve-Melchior-Clausen disease Dyschondrosteosis - nephritis 1775 Dyskeratosis congenita Dysmorphism - short stature - deafness - disorder of sex development Dystonia Early infantile epileptic encephalopathy Early myoclonic encephalopathy Early-onset cerebellar ataxia with retained tendon reflexes 256 Early-onset generalized limb-onset dystonia Ear-patella-short stature Ebstein malformation 3.5** 1235 Ectodermal dysplasia - absent dermatoglyphs < Ectodermal dysplasia - blindness Ectodermal dysplasia, Berlin Ectopia lentis - chorioretinal dystrophy - myopia 1888 Ectrodactyly - ectodermal dysplasia without clefting EEM Ehlers-Danlos 0.5** Ehlers-Danlos Ehlers-Danlos, classic Ehlers-Danlos, dermatosparaxis Ehlers-Danlos, fibronectinemic 285 Ehlers-Danlos, hypermobility Ehlers-Danlos, kyphoscoliotic 1** 2953 Ehlers-Danlos, musculocontractural Ehlers-Danlos, spondylocheirodysplastic 286 Ehlers-Danlos, vascular Ehrlichiosis < Eiken Ellis Van Creveld 0.3** 261 Emery-Dreifuss muscular dystrophy Encephalocraniocutaneous lipomatosis Encephalopathy due to GLUT Encephalopathy due to hydroxykynureninuria < 30 or Encephalopathy due to prosaposin < Encephalopathy due to sulfite oxidase 296 Enchondromatosis 1 > Endosteal sclerosis - cerebellar hypoplasia Eng-Strom Enthesitis-related arthritis Eosinophilic esophagitis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic granulomatosis with polyangiitis Ependymal tumor Epidermal nevus > Epidermolysis bullosa simplex Epidermolysis bullosa simplex with muscular dystrophy > Epilepsy - microcephaly - skeletal dysplasia Epilepsy telangiectasia Episodic ataxia Episodic ataxia Episodic ataxia Episodic ataxia Episodic ataxia Epithelio-exfoliative colitis - deafness Erdheim-Chester disease > Ermine pheno Erythrokeratodermia - ataxia Erythrokeratodermia variabilis > Erythropoietic protoporphyria Esophageal atresia Esophageal carcinoma 12.2* 3318 Essential thrombocythemia Esthesioneuroblastoma Ethylmalonic encephalopathy < Evans Ewing sarcoma Extraskeletal myxoid chondrosarcoma Eyebrow duplication - syndactyly Fabry disease 0.22** 1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation Facial onset sensory and motor neuronopathy Facioscapulohumeral dystrophy 4 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

13 or Familial acute necrotizing encephalopathy Familial adenomatous polyposis Familial caudal dysgenesis Familial cold urticaria Familial developmental dysphasia Familial dysautonomia Familial encephalopathy with neuroserpin inclusion bodies > Familial glucocorticoid Familial isolated dilated cardiomyopathy Familial isolated hypoparathyroidism < Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Familial isolated restrictive cardiomyopathy Familial long QT 40** Familial multiple fibrofolliculoma Familial or sporadic hemiplegic migraine Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy due to AKT2 mutations Familial partial lipodystrophy, Dunnigan Familial partial lipodystrophy, Köbberling < Familial platelet with predisposition to acute myelogenous leukemia Familial primary hypomagnesemia with normocalcuria and normocalcemia Familial scaphocephaly, McGillivray < Familial sick sinus Familial thyroid dyshormonogenesis 4 84 Fanconi anemia FASTKD2-related infantile mitochondrial encephalomyopathy Fatal familial insomnia Fatal mitochondrial disease due to combined oxidative phosphorylation Feingold < Femur-fibula-ulna complex Fetal akinesia deformation sequence 0.6** 1915 Fetal alcohol 1.6** 294 Fetal cytomegalovirus Fetal Gaucher disease Fetal methylmercury Fetal varicella > Fibrochondrogenesis Fibrodysplasia ossificans progressiva 0.05 or 1118 Fibular aplasia - ectrodactyly < Fibular dimelia - diplopodia Fibular hemimelia Filippi < Fine-Lubinsky Fingerprint body myopathy < Floating-Harbor Flynn-Aird Focal dermal hypoplasia Focal facial dermal dysplasia I Focal myositis Focal, segmental or multifocal dystonia Follicular lymphoma Fountain Foveal hypoplasia - presenile cataract Fragile X Frank-Ter Haar Fraser 0.2** 347 Frasier > Freeman-Sheldon Fried 95 Friedreich ataxia Frontometaphyseal dysplasia < Frontotemporal dementia Fructose-1,6-bisphosphatase 5** 2059 Fryns 7** 349 Fucosidosis Fuhrmann Fumaric aciduria < Furlong Galactosemia 2** 2065 Galloway-Mowat Gamma-aminobutyric acid transaminase Gamma-glutamyl transpeptidase Gamma-glutamylcysteine synthetase GAPO Gastric cancer Gastrointestinal stromal tumor Gastroschisis 23.7** 355 Gaucher disease Gaucher disease - ophthalmoplegia - cardiovascular calcification Gaucher disease 1 1 < 10 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

14 77260 Gaucher disease Gaucher disease or GCS1-CDG Geleophysic dysplasia Genitopatellar German Giant axonal neuropathy Gingival fibromatosis - progressive deafness Gitelman Glaucoma - ectopia - microspherophakia - stiff joints - short stature Glaucoma - sleep apnea Glial tumor Glioblastoma Global developmental delay - osteopenia - ectodermal defect 2087 Glomerulonephritis - sparse hair - telangiectasis 3 < Glossopalatine ankylosis Glucose-galactose malabsorption Glutaryl-CoA dehydrogenase 1** 32 Glutathione synthetase Glycine encephalopathy Glycogen storage disease due to acid maltase 2088 Glycogen storage disease due to GLUT2 367 Glycogen storage disease due to glycogen branching enzyme 2089 Glycogen storage disease due to hepatic glycogen synthase Glycogen storage disease due to LAMP Glycogen storage disease due to muscle and heart glycogen synthase 371 Glycogen storage disease due to muscle phosphofructokinase 715 Glycogen storage disease due to muscle phosphorylase kinase 713 Glycogen storage disease due to phosphoglycerate kinase Glycogen storage disease due to phosphoglycerate mutase 0.8** 0.1** < < 30 < < Goldberg-Shprintzen megacolon Goldblatt Goldenhar Goldmann-Favre < Gollop-Wolfgang complex Gómez-López-Hernández Gonadal dysgenesis, XY - associated anomalies or Goodman 3 73 Gorham-Stout disease < Gorlin Gorlin-Chaudhry-Moss GRACILE 2** Graft versus host disease Grange Granulomatosis with polyangiitis Granulomatous arthritis of childhood Granulomatous slack skin < Gräsbeck-Imerslund disease Gray platelet Greenberg dysplasia < Greig cephalopolysyndactyly Griscelli disease Growth - brachydactyly - dysmorphism Growth delay due to insulin-like growth factor GTP cyclohydrolase I Guanidinoacetate methyltransferase Guillain-Barré H Haim-Munk < Hair defect - photosensitivity - intellectual disability Hairy cell leukemia 3.12* Hallermann-Streiff < Harlequin ichthyosis < Hartnup Hartsfield-Bixler-Demyer Hashimoto-Pritzker < Heart defects - limb shortening HEC Heinz body anemia < Helicoid peripapillary chorioretinal degeneration 2130 Hemimelia Hemolytic anemia due to adenylate kinase * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

15 712 Hemolytic anemia due to glucophosphate isomerase Hemolytic anemia due to glutathione reductase 448 Hemophilia Hemophilia A Hemophilia B Hemorrhagic disease due to alpha-1- antitrypsin Pittsburgh mutation or Hennekam > Hennekam-Beemer Hepatic veno-occlusive disease Hepatic veno-occlusive disease - immuno 449 Hepatoblastoma Hepatocellular carcinoma Hepatosplenic T-cell lymphoma Hereditary angioedema Hereditary breast and ovarian cancer Hereditary chronic pancreatitis Hereditary cryohydrocytosis with reduced stomatin 288 Hereditary elliptocytosis 35 < Hereditary folate malabsorption Hereditary fructose intolerance Hereditary hemorrhagic telangiectasia Hereditary hyperferritinemia with congenital cataracts Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia 2590 Hereditary myoclonus - progressive distal muscular atrophy Hereditary myopathy with lactic acidosis due to ISCU > < Hereditary neurocutaneous angioma < Hereditary North American Indian childhood cirrhosis Hereditary orotic aciduria < Hereditary progressive mucinous histiocytosis Hereditary proximal myopathy with early respiratory failure 970 Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy with deafness and global delay 685 Hereditary spastic paraplegia Hereditary spherocytosis Hereditary thrombophilia due to congenital protein C 0.2 < Hereditary thrombophilia due to congenital protein S or Hereditary vascular retinopathy 3467 Hereditary xanthinuria Hermansky-Pudlak Hermansky-Pudlak with neutropenia HERNS Hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia, Christianson- Fourie Hidrotic ectodermal dysplasia, Halal Hirschsprung disease 12.1** 2155 Hirschsprung disease - deafness - polydactyly Hirschsprung disease - nail hypoplasia - dysmorphism Hirschsprung disease - D brachydactyly Hodgkin lymphoma Holmes-Gang Holoprosencephaly 13.4** 392 Holt-Oram 0.4** 2168 Homocarnosinosis Homocystinuria without methylmalonic aciduria HSD10 disease, atypical Humero-radial synostosis Humero-radio-ulnar synostosis Humerospinal dysostosis Humero-ulnar synostosis Hunter-McAlpine craniosynostosis Huntington disease Hurler Hurler-Scheie Hutchinson-Gilford progeria Hydrocephalus - blue sclerae - nephropathy 2180 Hydrocephalus - costovertebral dysplasia - Sprengel anomaly 2182 Hydrocephalus with stenosis of aqueduct of Sylvius Hydrocephaly - tall stature - joint laxity Hydrolethalus 5** Hyperandrogenism due to cortisone reductase Hypercholesterolemia due to cholesterol 7alpha-hydroxylase Hypercoagulability due to glycosylphosphatidylinositol Hyperekplexia - epilepsy Hypereosinophilic 1.5 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

16 343 Hyperimmunoglobulinemia D with periodic fever 682 Hyperkalemic periodic paralysis 0.5 or Hyperkeratosis-hyperpigmentation Hyperlipoproteinemia Hyperlipoproteinemia Hypernychthemeral Hyperornithinemia-hyperammonemiahomocitrullinuria Hyperplastic polyposis Hypertelorism, Teebi Hypertrichosis cubiti - short stature Hypertrichosis lanuginosa congenita < Hypertrichosis-acromegaloid facial appearence 12 < Hypertrichotic osteochondrodysplasia Hypertrichotic osteochondrodysplasia, Cantu 429 Hypochondroplasia Hypocomplementemic urticarial vasculitis < Hypoglossia - hypodactyly < Hypogonadotropic hypogonadism - retinitis pigmentosa 1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia 681 Hypokalemic periodic paralysis Hypomandibular faciocranial dysostosis Hypomyelination - congenital cataract Hypomyelination - hypogonadotropic hypogonadism - hypodontia Hypomyelination with atrophy of basal ganglia and cerebellum Hypoparathyroidism - deafness - renal disease Hypophosphatasia 0.21** 2244 Hypopituitarism - microphthalmia < Hypopituitarism - postaxial polydactyly Hypoplastic left heart 15.1** Hypospadias - hypertelorism - coloboma and deafness Hypotonia - cystinuria Hypotonia with lactic acidemia and hyperammonemia Hypotrichosis - lymphedema - telangiectasia Hypotrichosis simplex Hypotrichosis with juvenile macular degeneration 2266 Hypotrichosis-intellectual disability, Lopes 50 2 or Iatrogenic botulism > IBIDS ICF Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration Ichthyosis - hypotrichosis - sclerosing cholangitis 4 2 < Ichthyosis - oral and digital anomalies Ichthyosis follicularis - alopecia - photophobia > Ichthyosis prematurity Ichthyosis-hypotrichosis Idiopathic achalasia Idiopathic acute eosinophilic pneumonia > Idiopathic and/or familial pulmonary arterial hypertension Idiopathic aplastic anemia Idiopathic hypereosinophilic Idiopathic neonatal atrial flutter 2** 2032 Idiopathic pulmonary fibrosis Idiopathic steroid-sensitive nephrotic IMAGe < Iminoglycinuria Immune dysregulation-polyendocrinopathyenteropathy-x-linked 3002 Immune thrombocytopenic purpura Immuno by defective expression of HLA class Immuno due to CD Immuno due to interleukin-1 receptor-associated kinase Immuno due to selective antipolysaccharide antibody Immuno with natural-killer cell and adrenal insufficiency Inappropriate antidiuretic hormone secretion Incessant infant ventricular tachycardia 1.5** 611 Inclusion body myositis Incontinentia pigmenti 0.7** Indolent systemic mastocytosis 3.8 < Infant epilepsy with migrant focal crisis Infantile choroidocerebral calcification 10 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

17 or Infantile neuroaxonal dystrophy > Infantile onset spinocerebellar ataxia Inflammatory pseudotumor of the liver Inhalational botulism Inherited congenital spastic tetraplegia Inherited epidermolysis bullosa intellectual disability - cataracts - kyphosis intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 1495 intellectual disability - hypoplastic corpus callosum - preauricular tag 3051 intellectual disability - sparse hair - brachydactyly intellectual disability, Birk-Barel intellectual disability, X-linked - acromegaly - hyperactivity intellectual disability, X-linked - craniofacioskeletal intellectual disability, X-linked - cubitus valgus - dysmorphism 1568 intellectual disability, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures 2958 intellectual disability, X-linked - dysmorphism - cerebral atrophy intellectual disability, X-linked - epilepsy - progressive joint contractures - dysmorphism intellectual disability, X-linked - hypogammaglobulinemia - progressive neurological deterioration intellectual disability, X-linked - hypogonadism - ichthyosis - obesity - short stature intellectual disability, X-linked - hypotonia - facial dysmorphism - aggressive behavior intellectual disability, X-linked - macrocephaly - macro-orchidism intellectual disability, X-linked - plagiocephaly intellectual disability, X-linked - precocious puberty - obesity 3077 intellectual disability, X-linked - psychosis - macroorchidism 3052 intellectual disability, X-linked - seizures - psoriasis intellectual disability, X-linked, Abidi intellectual disability, X-linked, Armfield intellectual disability, X-linked, Cantagrel intellectual disability, X-linked, Kroes intellectual disability, X-linked, Miles- Carpenter intellectual disability, X-linked, Pai intellectual disability, X-linked, Schimke intellectual disability, X-linked, Seemanova or intellectual disability, X-linked, Shashi intellectual disability, X-linked, Shrimpton intellectual disability, X-linked, Siderius intellectual disability, X-linked, Snyder intellectual disability, X-linked, Stevenson intellectual disability, X-linked, Stocco Dos Santos intellectual disability, X-linked, Vitale intellectual disability, X-linked, Wilson intellectual disability, X-linked, Wittwer intellectual disability, X-linked, Zorick Intellectual disability-developmental delaycontractures Internal carotid agenesis Interstitial granulomatous dermatitis with arthritis Intractable diarrhea - choanal atresia - eye anomalies IRIDA IRVAN < 30 6 Isolated 3-methylcrotonyl-CoA carboxylase 2.3** 1048 Isolated anencephaly/exencephaly 35** Isolated aniridia Isolated anophthalmia - microphthalmia Isolated anorectal malformation Isolated anterior cervical hypertrichosis < Isolated brachycephaly Isolated cloverleaf skull Isolated congenital anosmia < Isolated Dandy-Walker malformation 2.1** 2345 Isolated Klippel-Feil Isolated Pierre Robin 5** Isolated plagiocephaly Isolated scaphocephaly Isolated spina bifida 18.6** 3366 Isolated trigonocephaly Isotretinoin-like 6 33 Isovaleric acidemia IVIC Jackson-Weiss Jacobsen Jalili 49 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

18 90647 Jervell and Lange-Nielsen 0.3 or 2315 Johanson-Blizzard Joubert Joubert and related disorders 1.1** 1454 Joubert with hepatic defect Joubert with orofaciodigital defect Juberg-Hayward Juberg-Marsidi Junctional epidermolysis bullosa Juvenile chronic recurrent multifocal osteomyelitis > Juvenile hyaline fibromatosis Juvenile myelomonocytic leukemia Juvenile neuronal ceroid lipofuscinosis Juvenile Paget disease Juvenile polyposis of infancy Juvenile psoriatic arthritis Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-positive polyarthritis Juvenile temporal arteritis Kabuki Kahrizi Kaler-Garrity-Stern Kallmann Kallmann - heart disease Kaposi's sarcoma Kapur-Toriello Kasabach-Merritt > KBG Kearns-Sayre Kennedy disease 1.7** 2339 Keratosis follicularis - dwarfism - cerebral atrophy Keratosis palmaris et plantaris - clinodactyly < Ketoacidosis due to beta-ketothiolase KID < Kimura disease Kozlowski-Brown-Hardwick Krabbe disease 1** 2355 Kumar-Levick 2363 Lacrimo-auriculo-dento-digital Lambert-Eaton myasthenic Laminopathy Decaudain-Vigouroux Langerhans cell histiocytosis Large congenital melanocytic nevus Laron 0.2 or Laron with immuno < Laryngeal abductor paralysis - intellectual disability 2004 Laryngo-tracheo-esophageal cleft 7.5** < Lathosterolosis < LCAT Leber congenital amaurosis Leber hereditary optic neuropathy Leber 'plus' disease Legionellosis Leigh 2.75** Lelis Lennox-Gastaut Lenz-Majewski hyperostotic dwarfism LEOPARD Lesch-Nyhan 0.34** 1187 Lethal ataxia with deafness and optic atrophy Lethal faciocardiomelic dysplasia Lethal hemolytic anemia - genital anomalies Lethal Kniest-like dysplasia Lethal Larsen-like < Lethal multiple pterygium Lethal omphalocele-cleft palate Lethal osteosclerotic bone dysplasia Lethal polymalformative, Boissel Lethal recessive chondrodysplasia Lethal restrictive dermopathy Letterer-Siwe disease Leukocyte adhesion < Leukocyte adhesion II < Leukocyte adhesion III Leukoencephalopathy - ataxia - hypodontia - hypomyelination Leukoencephalopathy - dystonia - motor neuropathy Leukoencephalopathy - metaphyseal chondrodysplasia Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 2386 Leukoencephalopathy-palmoplantar keratoderma * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

19 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair or Lewis-Pashayan Lewis-Sumner Lhermitte-Duclos disease Lichstenstein Liddle Ligneous conjunctivitis Limb body wall complex 2** 263 Limb-girdle muscular dystrophy Limb-mammary Limited cutaneous systemic sclerosis Linear atrophoderma of Moulin < Lipodystrophy - intellectual disability - deafness Lipoid proteinosis > Lissencephaly due to TUBA1A mutation < Lissencephaly 3 - familial fetal akinesia sequence Lissencephaly 3 - metacarpal bone dysplasia Loeys-Dietz 10 5 Long chain 3-hydroxyacyl-CoA dehydrogenase 2621 Low birth weight - dwarfism - dysgammaglobulinemia 1** Lowry-Wood < Lung fibrosis - immuno - 46,XX gonadal dysgenesis 538 Lymphangioleiomyomatosis Lymphatic malformation Lymphedema - atrial septal defects - facial changes Lymphedema - cerebral arteriovenous anomaly Lysinuric protein intolerance 1.7** Macrocephaly - immune - anemia Macrocephaly - short stature - paraplegia Macrocephaly-autism < Macrostomia - preauricular tags - external ophthalmoplegia Macular coloboma - cleft palate - hallux valgus Macular corneal dystrophy Madras motor neuron disease Maffucci Malakoplakia > Malaria 3 or 679 Malignant atrophic papulosis > Malignant fibrous histiocytoma Malignant hyperthermia - arthrogryposis - torticollis Malignant peritoneal mesothelioma Malignant tumor of fallopian tubes Malonic aciduria MALT lymphoma Mandibuloacral dysplasia Mandibulofacial dysostosis-microcephaly Mantle cell lymphoma Marden-Walker < Marfan Marie Unna hereditary hypotrichosis > Marinesco-Sjögren Marshall > Marshall with periodic fever Marshall-Smith Martínez-Frías Mastocytosis Maternal hyperphenylalaninemia Maternally-inherited diabetes and deafness Matthew-Wood Mayer-Rokitansky-Küster-Hauser Mazabraud McCune-Albright McLeod neuroacanthocytosis Meacham < Meckel 0.2** Meconium aspiration Median cleft lip/mandibule Medium chain acyl-coa dehydrogenase 12** MEDNIK Medullary thyroid carcinoma Megacystis-microcolon-intestinal hypoperistalsis 2478 Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus Megalencephaly-capillary malformationpolymicrogyria 230 < * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

20 or MEHMO Melorheostosis Ménière disease Menkes disease 0.33** 551 MERRF Mesoaxial synostotic syndactyly with phalangeal reduction Mesothelioma Metachondromatosis Metachromatic leukodystrophy Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia - retinitis pigmentosa Metaphyseal chondrodysplasia, Jansen Metaphyseal chondrodysplasia, Kaitila Metatropic dysplasia Methimazole embryofetopathy Methylcobalamin cble Methylcobalamin cblg Methylmalonic acidemia with homocystinuria > Methylmalonic acidemia with homocystinuria, cblc Methylmalonic acidemia with homocystinuria, cbld Methylmalonic acidemia with homocystinuria, cblf Mevalonic aciduria MGAT2-CDG Michels Micro Microbrachycephaly - ptosis - cleft lip Microcephalic osteodysplastic dysplasia, Saul- Wilson 2636 Microcephalic osteodysplastic primordial dwarfism s I and III 4 < Microcephaly - brachydactyly - kyphoscoliosis Microcephaly - cardiomyopathy Microcephaly - cleft palate Microcephaly - digital anomalies - intellectual disability 2172 Microcephaly - glomerulonephritis - marfanoid habitus Microcephaly - intellectual disability - phalangeal and neurological anomalies Microcephaly - polymicrogyria - corpus callosum agenesis 2519 Microcephaly - seizures - intellectual disability - heart disease or Microcytic anemia with liver iron overload Microgastria - limb reduction defect Microlissencephaly - micromelia Microphthalmia - brain atrophy Microphthalmia with brain and digit anomalies Microphthalmia with limb anomalies > Microphthalmia with linear skin defects Microtia 13** Microtia - eye coloboma - imperforation of the nasolacrimal duct Mild hemophilia A Mild hemophilia B Miller-Dieker 1** 3004 Mirror polydactyly - vertebral segmentation - limbs defects 1933 Mitochondrial DNA depletion, encephalomyopathic form with methylmalonic aciduria 2598 Mitochondrial myopathy and sideroblastic anemia 298 Mitochondrial neurogastrointestinal encephalomyopathy 2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 0.3** Mixed connective tissue disease 3.8 < Mixed dystonia Miyoshi myopathy Moderately severe hemophilia A Moderately severe hemophilia B Moebius Mohr-Tranebjaerg > Monoclonal Ig light chain-associated Fanconi Mononen-Karnes-Senac Monosomy 18p < Monosomy 21 < Monosomy 22q13 > Monosomy 5p 4** Monosomy 9q Moore-Federman Mosaic variegated aneuploidy Mounier-Kühn > Mowat-Wilson < Moyamoya disease 0.33 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

CMS CLINICAL ELIGIBILITY ATTESTATION

CMS CLINICAL ELIGIBILITY ATTESTATION CMS CLINICAL ELIGIBILITY ATTESTATION Patient Name: DOB: Medicaid and/or KidCare ID: Parent/Legal Guardian Name: Phone number: Initial all that Apply: Initials ICD 10 Descriptor Certain infectious and parasitic

More information

Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada

Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada Comprehensive List of Neuromuscular Disorders Covered by Muscular Dystrophy Canada Neuromuscular disorders is a general term that refers to diseases that affect any part of the nerve and muscle. These

More information

Co-pay assistance organizations offering assistance

Co-pay assistance organizations offering assistance Acromegaly Acute Exacerbations of Multiple Sclerosis Acute Porphyrias Advanced Idiopathic Parkinson' s Disease Age-Related Macular Degeneration www.theassistancefund.org Alcohol Dependence Alpha-1 Antitrypsin

More information

ICD-10 coding rules for rare diseases

ICD-10 coding rules for rare diseases October 2014 ICD-10 coding rules for rare diseases Procedural document www.orpha.net Table of contents Table of contents... 2 General points... 3 I. Purpose... 3 II. Reference documents... 3 III. Range

More information

One (1) single qualifying condition of either HIV/AIDS or a Serious Mental Illness (SMI)

One (1) single qualifying condition of either HIV/AIDS or a Serious Mental Illness (SMI) Eligibility Criteria for Health Home Services: Chronic Conditions New York State s Health Home eligibility criteria is as follows: Medicaid eligible/active Medicaid; and Two (2) or more chronic conditions;

More information

List of Qualifying Conditions

List of Qualifying Conditions List of Qualifying Conditions Cancer Conditions 1) Adrenal cancer 2) Bladder cancer 3) Bone cancer all forms 4) Brain cancer 5) Breast cancer 6) Cervical cancer 7) Colon cancer 8) Colorectal cancer 9)

More information

ACMG Practice Guideline

ACMG Practice Guideline June 2007 Vol. 9 No. 6 ACMG Practice Guideline Indications for genetic referral: a guide for healthcare providers Beth A. Pletcher, MD 1, Helga V. Toriello, PhD 2, Sarah J. Noblin, MS, CGC 3, Laurie H.

More information

www.assureimmune.com

www.assureimmune.com Stem Cell Bank Cord Blood Important facts for when you re expecting www.assureimmune.com Banking your baby s umbilical cord blood could be a potentially lifesaving decision. There s a brief moment of opportunity

More information

The Newborn With a Congenital Disorder. Chapter 14. Copyright 2008 Wolters Kluwer Health Lippincott Williams & Wilkins

The Newborn With a Congenital Disorder. Chapter 14. Copyright 2008 Wolters Kluwer Health Lippincott Williams & Wilkins The Newborn With a Congenital Disorder Chapter 14 Congenital Anomalies or Malformations May be caused by genetic or environmental factors Approximately 2% to 3% of all infants born have a major malformation

More information

Neonatal Hypotonia. Clinical Approach to Floppy Baby

Neonatal Hypotonia. Clinical Approach to Floppy Baby Neonatal Hypotonia Clinical Approach to Floppy Baby Hypotonia in the newborn is a common presenting feature of systemic illness or neurologic dysfunction at any level of the central or peripheral nervous

More information

dagan.wells@obs gyn.ox.ac.ukgyn.ox.ac.uk

dagan.wells@obs gyn.ox.ac.ukgyn.ox.ac.uk In vitro fertilisation and genetic testing Dagan Wells, PhD, FRCPath dagan.wells@obs gyn.ox.ac.ukgyn.ox.ac.uk Infertility Unprotected intercourse for 1 year without conception Very common 1 in 6 couples

More information

NCD for Lipids Testing

NCD for Lipids Testing Applicable CPT Code(s): NCD for Lipids Testing 80061 Lipid panel 82465 Cholesterol, serum or whole blood, total 83700 Lipoprotein, blood; electrophoretic separation and quantitation 83701 Lipoprotein blood;

More information

Neuromuscular diseases

Neuromuscular diseases Neuromuscular diseases Spinal muscular atrophy - SMA characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. SMA type 1, is also known as Werdnig-

More information

Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD

Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD Responsible Party Telephone Number Date Name of Child Date of Birth Time of Birth Sex Resident County Placement County

More information

SERIOUS ILLNESS COVER

SERIOUS ILLNESS COVER WITH OUR COVER YOU ARE MORE LIKELY TO GET A PAYOUT VITALITY.CO.UK/LIFE Vitality s Serious Illness Cover offers protection against serious illnesses as well as advanced or life threatening ones THE AVERAGE

More information

Section V RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM

Section V RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM Section V RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM 84 RARE AND EXPENSIVE CASE MANAGEMENT (REM) PROGRAM Overview The Department of Health and Mental Hygiene (DHMH) administers a Rare and Expensive

More information

Management in the pre-hospital setting

Management in the pre-hospital setting Management in the pre-hospital setting Inflammation of the joints Two main types: Osteoarthritis - cartilage loss from wear and tear Rheumatoid arthritis - autoimmune disorder Affects all age groups,

More information

The Compassionate Allowances Initiative (CAL)

The Compassionate Allowances Initiative (CAL) The Compassionate Allowances Initiative (CAL) CAL s objective is to quickly identify conditions that invariably meet Social Security disability standards CAL initiative began with a public outreach hearing

More information

A Source of Hard- to- Find Pa3ents and Caregivers For Researchers. Peter Ziedins Peter.ziedins@mpiresearch.ca 514-426- 9295 www.rarepa;entvoice.

A Source of Hard- to- Find Pa3ents and Caregivers For Researchers. Peter Ziedins Peter.ziedins@mpiresearch.ca 514-426- 9295 www.rarepa;entvoice. A Source of Hard- to- Find Pa3ents and Caregivers For Researchers Peter Ziedins Peter.ziedins@mpiresearch.ca 514-426- 9295 www.rarepa;entvoice.com About RPV Rare Pa3ent Voice, LLC was formed to provide

More information

Critical Illness with Term Assurance

Critical Illness with Term Assurance AIG Life Critical Illness with Term Assurance Our comprehensive Critical Illness with Term Assurance delivers more value and quality to the customer and their family than ever before. It is designed to

More information

Systemic Health: Pathology

Systemic Health: Pathology Page 1 Systemic Health: Pathology A. General Health 2. Detailed history with regards to differential diagnosis of fatigue, weight loss, fever, headache, dizziness, and malaise 3. Presentations involving

More information

SUPER CARE CRITICAL ILLNESS PROTECTOR

SUPER CARE CRITICAL ILLNESS PROTECTOR SUPER CARE CRITICAL ILLNESS PROTECTOR At ACE Life, we are committed to helping our valued customers achieve financial security and have a peace of mind through our comprehensive range of life insurance

More information

Please leave this space blank

Please leave this space blank Please leave this space blank REQUEST FORM EXOME SEQUENCING Radboudumc 848 Human Genetics / Genome diagnostics Postbus 9101 6500 HB Nijmegen, The Netherlands Laboratory head: Dr. H. Yntema Tel : 0031-(0)24-3613799

More information

ENDOCRINE, NUTRITIONAL AND METABOLIC DISEASES AND IMMUNITY DISORDERS

ENDOCRINE, NUTRITIONAL AND METABOLIC DISEASES AND IMMUNITY DISORDERS ENDOCRINE, NUTRITIONAL AND METABOLIC DISEASES AND IMMUNITY DISORDERS DISORDERS OF THYROID GLAND (240 246.9) 240 SIMPLE AND UNSPECIFIED GOITRE 240.0 GOITRE, SPECIFIED AS SIMPLE 240.9 GOITRE, UNSPECIFIED

More information

Jewish Genetic Diseases

Jewish Genetic Diseases 2014.2 Genetic science is a rapidly developing field. Information about Jewish genetic diseases is updated frequently. For the most recent and detailed information visit: JewishGeneticDiseases.org Jewish

More information

IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider

IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider 1. IKHLASlink Comprehensive Critical Illness Benefit Secure Takaful Rider Securing life uncertainties. With IKHLASlink Comprehensive

More information

MODERN IMMUNOHISTOCHEMISTRY

MODERN IMMUNOHISTOCHEMISTRY MODERN IMMUNOHISTOCHEMISTRY Cambridge Illustrated Surgical Pathology Peiguo G. Chu City of Hope National Medical Center, Duarte, California Lawrence M. Weiss City of Hope National Medical Center, Duarte,

More information

Cord blood Banking Transplant List for One USA Bank - StemCyte www.stemcyte.com/cordblood-banking-transplant-list

Cord blood Banking Transplant List for One USA Bank - StemCyte www.stemcyte.com/cordblood-banking-transplant-list Cells4Life is the oldest and largest cord blood storage company in the UK. We are governed by some of the world's most stringent medical laws, and are currently the only stem cell storage company in the

More information

Making the Connections District 75 NYCDOE

Making the Connections District 75 NYCDOE Medical Syndromes and Their Effect on Learning Making the Connections District 75 NYCDOE Cerebral Palsy The most frequent medical condition in 12:1:4 classes Associated with other disabilities including

More information

Texas Department of Aging and Disability Services Approved Diagnostic Codes for Persons with Related Conditions

Texas Department of Aging and Disability Services Approved Diagnostic Codes for Persons with Related Conditions Texas Department of Aging and Disability Services Approved Diagnostic Codes for Persons with Related Conditions The following diagnostic codes are based on the International Classification of Diseases,

More information

Diseases Treated by Blood Stem Cells

Diseases Treated by Blood Stem Cells Diseases Treated by Blood Stem Cells This is the only website to group hematopoietic (blood) stem cell treatments according to whether they are standard, in trial, or experimental. (Courtesy of Parents

More information

Transition to Use of ICD-10-CM Coding for Birth Defects, Part 3

Transition to Use of ICD-10-CM Coding for Birth Defects, Part 3 Transition to Use of ICD-10-CM Coding for Birth Defects, Part 3 Janet Cragan, MD MPH NBDPN Guidelines and Standards Committee December 4, 2014 National Center on Birth Defects and Developmental Disabilities

More information

Early Critical Care. confident

Early Critical Care. confident Early Critical Care confident It is important to detect a critical illness early, that is when you have the best chance of a recovery. Medical and technological advancement has now made it possible to

More information

Prevalence and incidence of rare diseases: Bibilographic data

Prevalence and incidence of rare diseases: Bibilographic data 2 March 2016 Prevalence and incidence of rare diseases: Bibilographic data s listed by decreasing prevalence, incidence or number of published cases www.orpha.net www.orphadata.org Methodology Orphanet

More information

Social Security Disability Insurance (SSDI) (Title II) Supplemental Security Income (SSI) (Title XVI)

Social Security Disability Insurance (SSDI) (Title II) Supplemental Security Income (SSI) (Title XVI) SSA administers two disability programs under the Social Security Act: Social Security Disability Insurance (SSDI) (Title II) Supplemental Security Income (SSI) (Title XVI) 2 We consider you disabled under

More information

Your health is an asset. Don t let critical illness turn it into a liability.

Your health is an asset. Don t let critical illness turn it into a liability. Your health is an asset. Don t let critical illness turn it into a liability. 100% lump sum payout for critical illness1 including early stage My Early Critical Illness Plan Be financially prepared for

More information

Fatty Acid Oxidation Disorders Galactosemia Biotinidase Deficiency

Fatty Acid Oxidation Disorders Galactosemia Biotinidase Deficiency Fatty Acid Oxidation Disorders Galactosemia Biotinidase Deficiency Dr. Kathy Grange, MD Division of Genetics and Genomic Medicine Department of Pediatrics Washington University School of Medicine What

More information

Enjoy a position of vantage, come what may.

Enjoy a position of vantage, come what may. Enjoy a position of vantage, come what may. prucrisis covervantage While you have achieved much in life and you and your family enjoy the benefits of success, there may be times when the unexpected happens.

More information

ICD-9 to ICD-10 Conversion Commonly Used Neurologic Diagnosis

ICD-9 to ICD-10 Conversion Commonly Used Neurologic Diagnosis ICD-9 to ICD-10 Conversion Commonly Used Neurologic Diagnosis 327.20 Organic sleep apnea, unspecified... 1 331.0 Alzheimer s disease...3 333.1 Essential and other specified forms of tremor...4 340 Multiple

More information

Critical PROVIDER FIELD UNDERWRITING GUIDE & RATE BOOK

Critical PROVIDER FIELD UNDERWRITING GUIDE & RATE BOOK G T L Critical PROVIDER FIELD UNDERWRITING GUIDE & RATE BOOK 10 OR 20 YEAR RENEWABLE TERM LIFE INSURANCE WITH A CRITICAL ILLNESS ACCELERATED BENEFIT RIDER WHICH PROVIDES CASH BENEFITS FOR 18 CRITICAL CONDITIONS

More information

The Patient Access Network (PAN) Foundation Eligibility Diseases Targeted Contact Information

The Patient Access Network (PAN) Foundation Eligibility Diseases Targeted Contact Information The Patient Access Network (PAN) Foundation is an independent non-profit organization that provides assistance to underinsured patients for their out-of-pocket expenses through more than 40 disease-specific

More information

We understand you want support right from the beginning

We understand you want support right from the beginning PROTECT We understand you want support right from the beginning PRUearly stage crisis cover Should an illness strike, the earlier it is diagnosed, the easier it is to manage and the higher the chances

More information

Chromosomal Abnormalities

Chromosomal Abnormalities Chromosomal Abnormalities George E Tiller, MD, PhD Regional Chief, Dept. Genetics Southern California Permanente Medical Group Los Angeles, CA Objectives of Lecture list several indications for karyotyping

More information

Patient Medical History

Patient Medical History Cardiovascular Abnormal Electrocardiogram Aortic Stenosis Atrial fibrillation Cardiac arrest Chest pain Congestive heart failure Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral

More information

NORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1

NORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1 NORD Guides for Physicians #1 The National Organization for Rare Disorders Physician s Guide to Tyrosinemia Type 1 The original version of this booklet was made possible by donations in honor of Danielle

More information

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk With our cover you are more likely to get a payout Serious Illness Cover pruprotect.co.uk Serious Illness Cover PruProtect s Serious Illness Cover offers protection against serious illnesses as well as

More information

Asteron Life Business Insurance

Asteron Life Business Insurance Asteron Life Business Insurance What lump sum covers are available with Asteron Life Business Insurance? Life Cover Life Cover pays a lump sum of money if you pass away or become terminally ill. Total

More information

PART 2. ELECTRODIAGNOSTIC DIFFERENTIAL DIAGNOSIS OF COMMON

PART 2. ELECTRODIAGNOSTIC DIFFERENTIAL DIAGNOSIS OF COMMON PART 2. ELECTRODIAGNOSTIC DIFFERENTIAL DIAGNOSIS OF COMMON SYMPTOMS AND SIGNS 1. PAIN FACIAL PAIN " lesion of the trigeminal nerve " trigeminal neuralgia " facial nerve lesion NECK PAIN " C5 radiculopathy

More information

Major Depression: See Psychological and Emotional Disorders

Major Depression: See Psychological and Emotional Disorders Major Depression: See Psychological and Emotional Disorders Malignant Melanoma: A tumor of the skin. The action depends on the stage and depth of invasion of the tumor. with pathology report 0-2 years

More information

LIPID PANEL CHOLESTEROL LIPOPROTEIN, ELECTROPHORETIC SEPARATION LIPOPROTEIN, DIRECT MEASUREMENT (HDL) LDL DIRECT TRIGLYCERIDES

LIPID PANEL CHOLESTEROL LIPOPROTEIN, ELECTROPHORETIC SEPARATION LIPOPROTEIN, DIRECT MEASUREMENT (HDL) LDL DIRECT TRIGLYCERIDES Test Code Test Name CPT CHOL Cholesterol, Serum 82465 HDL HDL, (High Density Lipoprotein) 83718 TRIG Triglycerides, Serum 84478 FTRIG Triglycerides (Fluid) 84478 LIPID Lipid Panel 80061 LDL LDL (Low Density

More information

General Thoracic Surgery ICD9 to ICD10 Crosswalks. C34.11 Malignant neoplasm of upper lobe, right bronchus or lung

General Thoracic Surgery ICD9 to ICD10 Crosswalks. C34.11 Malignant neoplasm of upper lobe, right bronchus or lung ICD-9 Code ICD-9 Description ICD-10 Code ICD-10 Description 150.3 Malignant neoplasm of upper third of esophagus C15.3 Malignant neoplasm of upper third of esophagus 150.4 Malignant neoplasm of middle

More information

Group 2: Critical Illness Benefits

Group 2: Critical Illness Benefits Group 2: Zurich s cover is designed to free yourself and your loved ones from the potentially devastating financial impact that follows diagnosis with a critical illness. 1. Level Term Life or Earlier

More information

Final Exam Study Guide Objectives Health Sciences 2230

Final Exam Study Guide Objectives Health Sciences 2230 Final Exam Study Guide Objectives Health Sciences 2230 UNIT 1 Chapter 2 Altered Cellular and Tissue Biology 1. Compare and contrast the adaptive and maladaptive cellular adaptations: atrophy, hypertrophy,

More information

Congenital Anomalies In Diamond Blackfan Anemia (DBA)

Congenital Anomalies In Diamond Blackfan Anemia (DBA) Congenital Anomalies In Diamond Blackfan Anemia (DBA) CS217857 National Center on Birth Defects and Developmental Disabilities Division of Blood Disorders Congenital Anomalies In Diamond Blackfan Anemia

More information

Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida

Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida 60% of childhood hearing loss is genetic Syndromic Nonsyndromic 40% of childhood hearing

More information

BIRTH DEFECTS IN MICHIGAN All Cases Reported and Processed by April 15, 2008

BIRTH DEFECTS IN MICHIGAN All Cases Reported and Processed by April 15, 2008 MICHIGAN DEPARTMENT OF COMMUNITY HEALTH Division for Vital Records and Health Statistics MICHIGAN BIRTH DEFECTS SURVEILLANCE REGISTRY BIRTH DEFECTS IN MICHIGAN All Cases Reported and Processed by April

More information

Developmental delay and Cerebral palsy. Present the differential diagnosis of developmental delay.

Developmental delay and Cerebral palsy. Present the differential diagnosis of developmental delay. Developmental delay and Cerebral palsy objectives 1. developmental delay Define developmental delay Etiologies of developmental delay Present the differential diagnosis of developmental delay. 2. cerebral

More information

Asteron Life Personal Insurance

Asteron Life Personal Insurance Asteron Life Personal Insurance What lump sum covers are available with Asteron Life Personal Insurance? Life Cover Life Cover insurance pays a lump sum of money if you pass away or become terminally ill.

More information

C CS. California Children Services Alameda County

C CS. California Children Services Alameda County C CS California Children Services Alameda County The California Children Services (CCS) Program strives to assure access to medical services essential to the health and well-being of children with catastrophic

More information

Closed Sub-TOI: L08.000 Life - Other Co Tr Num: BANRD-01 State Status: Approved-Closed

Closed Sub-TOI: L08.000 Life - Other Co Tr Num: BANRD-01 State Status: Approved-Closed Project Name/Number: / 01 Filing at a Glance Company: Banner Life Insurance Company SERFF Tr Num: FNBL-126416557 State: Arkansas TOI: L08 Life - Other SERFF Status: Closed-Approved- State Tr Num: 44441

More information

New Jersey Department of Children and Families Policy Manual. Date: Chapter: C Case Management and Oversight Subchapter: 2 Services

New Jersey Department of Children and Families Policy Manual. Date: Chapter: C Case Management and Oversight Subchapter: 2 Services New Jersey Department of Children and Families Policy Manual Manual: CP&P Child Protection and Permanency Effective Volume: III Case Management Date: Chapter: C Case Management and Oversight Subchapter:

More information

Disability Evaluation Under Social Security

Disability Evaluation Under Social Security Disability Evaluation Under Social Security Revised Medical Criteria for Evaluating Endocrine Disorders Effective June 7, 2011 Why a Revision? Social Security revisions reflect: SSA s adjudicative experience.

More information

Medicare Supplement Plans Underwriting and Administration Guide

Medicare Supplement Plans Underwriting and Administration Guide Medicare Supplement Plans Underwriting and Administration Guide 024227 (09-2011) Table of Contents Introduction....1 Underwriting Concepts...1 Coverage....1 Eligibility Requirements...1 Eligibility Considerations...1

More information

23. TERATOGENS AND THEIR EFFECTS

23. TERATOGENS AND THEIR EFFECTS 23. TERATOGENS AND THEIR EFFECTS Wendy Chung, M.D. Ph.D. Telephone: 851-5313 e-mail: wkc15@columbia.edu SUMMARY A congenital malformation is an anatomical or structural abnormality present at birth. Congenital

More information

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES

DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES Extracts from a review article by KN North and KJ Jones: Recent advances in diagnosis of the childhood muscular dystrophies Journal of Paediatrics and Child Health

More information

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk

With our cover you are more likely to get a payout. Serious Illness Cover. pruprotect.co.uk With our cover you are more likely to get a payout Serious Illness Cover pruprotect.co.uk Serious Illness Cover PruProtect s Serious Illness Cover offers protection against serious illnesses as well as

More information

ELIGIBILITY. Environmental risk factors should be identified by the multidisciplinary team.

ELIGIBILITY. Environmental risk factors should be identified by the multidisciplinary team. ELIGIBILITY I. At-Risk Infants or Toddlers [34 CFR 303.5; 303.501(e)] Children under the age of three who are at risk of developmental delay for biological or environmental reasons and who are not experiencing

More information

Description Code Recommendation Description Code. All natural death 001-799 IPH All natural death A00-R99

Description Code Recommendation Description Code. All natural death 001-799 IPH All natural death A00-R99 Natural death Description Code Recommendation Description Code All natural death 001-799 IPH All natural death A00-R99 Infectious and parasitic diseases 001-139 CDC, EUROSTAT, CBS & VG Infectious and parasitic

More information

Phoenix Remembrance Life

Phoenix Remembrance Life Phoenix Remembrance Life W e You Asked New Printer- Friendly Design! D e l i v e r e d Field Underwriting Guide For agent use only. Not for distribution to the public as sales literature. Phoenix Remembrance

More information

Louise Simmons Clinical Nurse Specialist Inherited Metabolic Disorders (IMD) Birmingham Children s Hospital

Louise Simmons Clinical Nurse Specialist Inherited Metabolic Disorders (IMD) Birmingham Children s Hospital Louise Simmons Clinical Nurse Specialist Inherited Metabolic Disorders (IMD) Birmingham Children s Hospital Individually rare Collectively not uncommon - 1:700 - Childhood cancer 1:500 Genetically inherited

More information

Critical Illness with Term Assurance

Critical Illness with Term Assurance AIG Life Critical Illness with Term Assurance Our comprehensive Critical Illness with Term Assurance delivers more value and quality to the customer and their family than ever before. It is designed to

More information

For customers Friends Life Individual Protection Critical Illness Cover. Critical Illness Cover. It s critical illness. And more.

For customers Friends Life Individual Protection Critical Illness Cover. Critical Illness Cover. It s critical illness. And more. For customers Friends Life Individual Protection Critical Illness Cover Critical Illness Cover It s critical illness. And more. It s critical illness. And 2 it s designed with your needs in mind. it covers

More information

DISABILITY-RELATED DEFINITIONS

DISABILITY-RELATED DEFINITIONS DISABILITY-RELATED DEFINITIONS 1. The Americans with Disabilities Act (ADA) of 1990 is a civil rights law, which makes it unlawful to discriminate on the basis of disability. It covers employment in the

More information

STEM CELLS : A THERAPEUTIC REVOLUTION JACQUES KADOCH ROBERT HEMMINGS MARINELA MANDRA

STEM CELLS : A THERAPEUTIC REVOLUTION JACQUES KADOCH ROBERT HEMMINGS MARINELA MANDRA STEM CELLS : A THERAPEUTIC REVOLUTION JACQUES KADOCH ROBERT HEMMINGS MARINELA MANDRA OVO CLINIC I 8000 BLVD DECARIE, MONTREAL QC H4P 2S4 I 514.798.2000 I OVOCLINIC.COM 2 a therapeutic revolution As the

More information

Allied, Therapeutic and Psychology Extender Benefit

Allied, Therapeutic and Psychology Extender Benefit Allied, Therapeutic and Psychology Extender Benefit 2013 The Allied, Therapeutic and Psychology Extender Benefit is available on the Enhanced Option only. Overview This document tells you about the Allied,

More information

Allied, Therapeutic and Psychology Extender Benefit

Allied, Therapeutic and Psychology Extender Benefit Allied, Therapeutic and Psychology Extender Benefit 2015 Allied, Therapeutic and Psychology Extender Benefit The Allied, Therapeutic and Psychology Extender Benefit is available on the Executive and Comprehensive

More information

promoting gene testing UKGTN Guide to centres with specialist expertise for rare genetic disorders August 2013 (revised December 2013)

promoting gene testing UKGTN Guide to centres with specialist expertise for rare genetic disorders August 2013 (revised December 2013) promoting gene testing UKGTN Guide to centres with specialist expertise for rare genetic disorders August 2013 (revised December 2013) Aberdeen Glasgow Edinburgh Newcastle Centres of expertise Belfast

More information

MRI EXAM CPT CODE REFERENCE

MRI EXAM CPT CODE REFERENCE I EXAM REFERENCE Use this reference to quickly determine the correct exam for your patients based on the indications described herein and the for the order. Creatine levels should be obtained prior to

More information

We have made the following changes to the Critical Illness events covered under our group critical illness policy.

We have made the following changes to the Critical Illness events covered under our group critical illness policy. We have made the following changes to the Critical Illness events covered under our group critical illness policy. March 2015 Because everyone needs a back-up plan 7 New critical illness events added to

More information

Life Protection Quotation

Life Protection Quotation Life Protection Quotation Prepared For: Date: 03/06/2013 Life Type: Single Life Quote Type: Specified Illness Cover Only QUOTATION DETAILS Male, 43 (01/Jan/1970), Non-Smoker, Specified Illness 124000 Monthly

More information

Influences on Birth Defects

Influences on Birth Defects Influences on Birth Defects FACTS About 150,000 babies are born each year with birth defects. The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There

More information

CONTENTS SECTION 1 FUNDAMENTALS 1 SECTION 2 DRUGS 75 SECTION 3 DIGESTIVE DISORDERS 109. A Guide for Readers Understanding Medical Terms

CONTENTS SECTION 1 FUNDAMENTALS 1 SECTION 2 DRUGS 75 SECTION 3 DIGESTIVE DISORDERS 109. A Guide for Readers Understanding Medical Terms CONTENTS A Guide for Readers xxxix Understanding Medical Terms xli SECTION 1 FUNDAMENTALS 1 1 The Human Body 2 2 Genetics 8 3 Making the Most of Health Care 17 4 Prevention 28 5 Exercise and Fitness 38

More information

Cord Cor Blood Banking Scott N. Furlan, MD Ellen S. Plummer, Plummer MD

Cord Cor Blood Banking Scott N. Furlan, MD Ellen S. Plummer, Plummer MD Cord Blood Banking Scott N. Furlan, MD Ellen S.Plummer, MD Overview Background Biology of Stem Cell Transplant Opportunities i at Parkland Logistics of Banking Potential Barriers Indications for HCT Cancer

More information

Causes of the Month CALENDAR

Causes of the Month CALENDAR JANUARY National Codependency Awareness Month National Mentoring Month (United States) Stalking Awareness Month (United States) Slavery and Human Trafficking Prevention Month (United States) Glaucoma Awareness

More information

Immune-Mediated Diseases. In a Nutshell

Immune-Mediated Diseases. In a Nutshell Immune-Mediated Diseases In a Nutshell Objectives Describe the epidemiology, clinical presentation, pathogenesis and pathologic changes of autoimmune diseases, including lupus erythematosis, rheumatoid

More information

Genetic Disorders in the United Arab Emirates

Genetic Disorders in the United Arab Emirates Genetic Disorders in the United Arab Emirates Ghazi Omar Tadmouri Erol Baysal Mansour Al Zarooni Mohammed Naveed Najat Rashid Sarah Al-Haj Ali Mahmoud Taleb Al Ali The burgeoning research in medical and

More information

Dental Admission Form

Dental Admission Form Dental Admission Form PERSONAL HISTORY All of the information which you provide on this form will be held in the strictest confidence. Although some questions may seem unimportant at the time, they may

More information

Chapter I Overview Chapter Contents

Chapter I Overview Chapter Contents Chapter I Overview Chapter Contents Table Number Contents I-1 Estimated New Cancer Cases and Deaths for 2005 I-2 53-Year Trends in US Cancer Death Rates I-3 Summary of Changes in Cancer Incidence and Mortality

More information

LIFE BOLD SIMPLE DIFFERENT. A personal approach to life cover LIFE

LIFE BOLD SIMPLE DIFFERENT. A personal approach to life cover LIFE LIFE SIMPLE BOLD DIFFERENT A personal approach to life cover LIFE ALEXANDER FORBES LIFE Protecting your wealth to secure your financial well-being Flexible, to change as often as life does. You can change

More information

For customers Friends Life Individual Protection. Childcover benefit

For customers Friends Life Individual Protection. Childcover benefit For customers Friends Life Individual Protection Childcover benefit Helping to protect the whole family Most parents don t want to think about what would happen if their child became critically ill. However,

More information

Dysmorphology. Samia Temtamy* & Mona Aglan** *Professor of Human Genetics **Professor of Clinical Genetics. National Research Centre, Cairo, Egypt

Dysmorphology. Samia Temtamy* & Mona Aglan** *Professor of Human Genetics **Professor of Clinical Genetics. National Research Centre, Cairo, Egypt Basic Concepts in Dysmorphology Samia Temtamy* & Mona Aglan** *Professor of Human Genetics **Professor of Clinical Genetics Human Genetics & Genome Research Division National Research Centre, Cairo, Egypt

More information

TERATOGENESIS ONTOGENESIS

TERATOGENESIS ONTOGENESIS TERATOGENESIS ONTOGENESIS Inborn developmental defects Occured during prenatal development Are present by delivery At about 3-5 % newborns are affected. Inborn developmental defects 1. CHROMOSOMAL ABERRATIONS

More information

Crisis Defender & Early Crisis Protector

Crisis Defender & Early Crisis Protector Crisis Defender & Early Crisis Protector MEDICAL Shield yourself with Prudential's comprehensive critical illnesses coverage! It s now a comprehensive crisis coverage with Crisis Defender & Early Crisis

More information

PHC4 35 Diseases, Procedures, and Medical Conditions for which Laboratory Data is Required Effective 10/1/2015

PHC4 35 Diseases, Procedures, and Medical Conditions for which Laboratory Data is Required Effective 10/1/2015 PHC4 35 Diseases, Procedures, and Medical Conditions for which Laboratory Data is Required Effective 10/1/2015 Laboratory data is to be submitted for discharges in the following conditions: 1. Heart Attack

More information

MALE AND FEMALE PANEL CHARTS

MALE AND FEMALE PANEL CHARTS MALE AND FEMALE PANEL CHARTS Complete Blood Count (CBC) Test What this test measures What test results may indicate Red blood cell count Total number of red blood cells Blood loss High altitude per volume

More information

TDA CARD: Classification of Impairments for persons 6 years old or over

TDA CARD: Classification of Impairments for persons 6 years old or over TDA CARD: Classification of Impairments for persons 6 years old or over Mental impairments 1.1 Developmental delay 1.2 Profound and severe intellectual impairment 1.3 Moderate intellectual impairment 1.4

More information

Medicare Supplement Plans Underwriting and Administration Guide

Medicare Supplement Plans Underwriting and Administration Guide Medicare Supplement Plans Underwriting and Administration Guide 024266 (10-2012) Table of Contents Introduction....1 Underwriting Concepts...1 Coverage....1 Eligibility Requirements...1 Eligibility Considerations...1

More information

The Patterns and Public Health Impact of Heart Defects in Texas Pediatric Cardiac Care Conference VI Dell Children s Medical Center, Feb.

The Patterns and Public Health Impact of Heart Defects in Texas Pediatric Cardiac Care Conference VI Dell Children s Medical Center, Feb. The Patterns and Public Health Impact of Heart Defects in Texas Pediatric Cardiac Care Conference VI Dell Children s Medical Center, Feb. 7-8, 2013 Mark Canfield, Ph.D. Manager, Birth Defects Epidemiology

More information

Objectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL

Objectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL Objectives Role of Medical Genetics in Hearing Loss Evaluation Millan Patel, MD UBC Dept. of Medical Genetics October 22, 2010 Case presentation to illustrate importance of defining syndromic hearing loss

More information

Autoimmune Diseases More common than you think Randall Stevens, MD

Autoimmune Diseases More common than you think Randall Stevens, MD Autoimmune Diseases More common than you think Randall Stevens, MD picture placeholder Autoimmune Diseases More than 60 different disorders Autoimmune disorders (AID) diseases caused by the immune system

More information