{"orpha":48431,"name":"Congenital cataracts-facial dysmorphism-neuropathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CCFDN"],"definition":"A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities of the eye; mildly dysmorphic facial features; and a hypo/demyelinating, symmetric, distal peripheral neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-48431/","orphanet_url":"https://www.orpha.net/en/disease/detail/48431","names":{"fr":{"name":"Syndrome de cataracte congénitale-dysmorphie faciale-neuropathie","synonyms":["CCFDN"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique autosomique récessif rare caractérisé par des anomalies de l'oeil, une légère dysmorphie faciale et une neuropathie périphérique distale symétrique hypo/démyélinisante."},"de":{"name":"Kongenitale Katarakt-Gesichtsdysmorphie-Neuropathie-Syndrom","synonyms":["CCFDN-Syndrom"],"definition":"Ein seltene autosomal-rezessive Entwicklungsstörung, die durch Anomalien des Auges, leicht dysmorphe Gesichtsdysmorphien und eine hypo/demyelinisierende, symmetrische, distale periphere Neuropathie gekennzeichnet ist."},"es":{"name":"Síndrome de catarata congénita-dismorfia facial-neuropatía","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente, autosómico recesivo, caracterizado por anomalías oculares, dismorfia facial leve y neuropatía periférica hipo/ desmielinizante periférica distal."},"it":{"name":"Cataratta congenita - dismorfismi facciali - neuropatia","synonyms":["CCFDN"]},"nl":{"name":"Congenitale cataracten - faciale dysmorfie - neuropathie-syndroom","synonyms":["CCFDN"],"definition":"Een zeldzaam autosomaal recessief syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door oogafwijkingen, milde dysmorfe gelaatskenmerken, en een hypo-/demyeliniserende, symmetrische, distale perifere neuropathie."},"pt":{"name":"Síndrome de cataratas congénitas-dismorfia facial-neuropatia","synonyms":["CCFDN"],"definition":"Síndrome dismórfica/anomalia congénita múltipla rara, autossómica recessiva caracterizada por anomalias oculares; características faciais dismórficas ligeiras; e uma neuropatia periférica distal, simétrica, hipo/desmielinizante."},"pl":{"name":"Zaćma wrodzona -dysmorfia twwarzy - neuropatia","synonyms":["CCFDN"]},"cs":{"name":"Syndrom zahrnující vrozenou kataraktu, faciální dysmorfismus a neuropatii","synonyms":["CCFDN"]},"uk":{"name":"Синдром вродженої катаракти-дизморфізму обличчя-невропатії","synonyms":["CCFDN"],"definition":"A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities of the eye; mildly dysmorphic facial features; and a hypo/demyelinating, symmetric, distal peripheral neuropathy."},"zh":{"name":"先天性白内障-面部畸形-神经病变综合征","synonyms":["CCFDN"]},"tr":{"name":"Doğumsal katarakt-fasiyal dismorfizm-nöropati sendromu","synonyms":["CCFDN"]}},"xrefs":[{"source":"OMIM","code":"604168","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"359570451"},{"source":"MONDO","code":"0011402","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565822","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858726","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98098,"name":"Autosomal recessive degenerative and progressive cerebellar ataxia","classifications":[156,181]},{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":207028,"name":"Cerebellar ataxia with peripheral neuropathy","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"CTDP1","name":"CTD phosphatase subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301787[PMID]","hgnc":"2498","ensembl":"ENSG00000060069","omim":"604927","loci":["18q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":170.0,"area":"Worldwide","status":"Validated","source":"20301787[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-20","source":"16939648[PMID]","terms":[{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034681","label":"Finger joint contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005830","label":"Flexion contracture of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007182","label":"Peripheral hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008942","label":"Acute rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}