{"orpha":1375,"name":"Cataract-hypertrichosis-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CAHMR syndrome"],"definition":"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1375/","orphanet_url":"https://www.orpha.net/en/disease/detail/1375","names":{"fr":{"name":"Syndrome de cataracte-hypertrichose-déficience intellectuelle","synonyms":["Syndrome de CAHMR"],"definition":"Le syndrome de cataracte-hypertrichose-déficience intellectuelle est caractérisé par une cataracte congénitale, une hypertrichose généralisée et un déficit intellectuel. Il a été décrit chez deux frères égyptiens nés de parents consanguins. Il se transmet sur le mode autosomique récessif."},"de":{"name":"Katarakt-Hypertrichose-Intelligenzminderung-Syndrom","synonyms":["CAHMR-Syndrom"],"definition":"Das Katarakt-Hypertrichose-Intelligenzminderung-Syndrom ist durch angeborenen grauen Star, generalisierte Hypertrichose und Intelligenzminderung gekennzeichnet. Es wurde bei zwei ägyptischen Geschwistern mit konsanguinen Eltern beschrieben. Es wird autosomal-rezessiv vererbt."},"es":{"name":"Síndrome de catarata-hipertricosis-discapacidad intelectual","synonyms":["Síndrome CAHMR"],"definition":"Es un síndrome caracterizado por cataratas congénitas, hipertricosis generalizada y déficit intelectual. Se ha descrito en dos hermanos egipcios nacidos de padres consanguíneos. Se transmite como rasgo autosómico recesivo."},"it":{"name":"Sindrome cataratta-ipertricosi-disabilità intellettiva","synonyms":["Sindrome di Cahmr","Sindrome di CAHMR"]},"nl":{"name":"Cataract - hypertrichose - intellectuele achterstand-syndroom","synonyms":["CAHMR-syndroom"],"definition":"Een syndroom, gekenmerkt door congenitaal cataract, gegeneraliseerde hypertrichose, en intellectuele achterstand. Het werd beschreven bij twee Egyptische broers/zussen van bloedverwante ouders, en wordt overgedragen als een autosomaal recessief kenmerk."},"pt":{"name":"Síndrome de catarata-hipertricose-perturbação do desenvolvimento intelectual","synonyms":["Síndrome CAHMR"]},"pl":{"name":"Zaćma - hipertrichoza - niepełnosprawność intelektualna","synonyms":["Zespół CAHMR"]},"cs":{"name":"Syndrom zahrnující kataraktu, hypertrichózu a mentální retardaci","synonyms":["CAHMR syndrom"]},"uk":{"name":"Синдром катаракти - гіпертрихозу - інтелектуальної недостатності","synonyms":["Синдром CAHMR"],"definition":"Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait."},"zh":{"name":"白内障-多毛-智力障碍综合征","synonyms":["CAHMR综合征"]},"tr":{"name":"Katarakt-hipertrikoz-zihinsel yetersizlik sendromu","synonyms":["CAHMR sendromu"]}},"xrefs":[{"source":"OMIM","code":"211770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"719310172"},{"source":"MONDO","code":"0008894","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537959","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796282","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null}]}}