{"orpha":1373,"name":"Cataract-aberrant oral frenula-growth delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Wellesley-Carman-French syndrome"],"definition":"Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1373/","orphanet_url":"https://www.orpha.net/en/disease/detail/1373","names":{"fr":{"name":"Syndrome de cataracte-freins buccaux anormaux-retard de croissance","synonyms":["Syndrome de Wellesley-Carman-French"],"definition":"Le syndrome de cataracte-freins buccaux anormaux-retard de croissance est caractérisé par une cataracte, une petite taille et des anomalies variables incluant une anomalie des freins buccaux, un faciès caractéristique (oreilles en rotation postérieure, fentes palpébrales mongoloïdes, petit nez, ptosis et épicanthus), des hémangiomes caverneux, des hernies... Il a été décrit chez une mère et ses deux enfants. Il se transmet sur le mode autosomique dominant."},"de":{"name":"Katarakt-aberrante orale Frenula-Wachstumsverzögerung-Syndrom","synonyms":["Wellesley-Carman-French-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Katarakt, Kleinwuchs und verschiedene begleitende Anomalien: Abnorme orale Frenula, ein charakteristisches Gesicht (posterior gewinkelte Ohren, anti-mongoloide Lidachsen, kleine Nase, Ptose, Epikanthus), kavernöse Hämangiome und Hernien. Es wurde bei einer Mutter und ihren beiden Kindern beschrieben, was für autosomal-dominante Vererbung spricht."},"es":{"name":"Síndrome de catarata-frenillo bucal-retraso del crecimiento","definition":"Las características de este síndrome son las cataratas y la baja estatura asociada con anomalías variables, incluyendo frenillos orales aberrantes, un aspecto facial característico (orejas en rotación posterior, fisuras palpebrales oblicuas ascendentes, nariz pequeña, ptosis y epicantos), hemangiomas cavernosos y hernias. Se ha descrito en una madre y sus dos hijos. Se transmite como un rasgo autosómico dominante."},"it":{"name":"Cataratta - frenuli orali - ritardo della crescita","synonyms":["Sindrome di Wellesley-Carman-French"]},"nl":{"name":"Cataract - afwijkend oraal frenulum - groeiachterstand-syndroom","synonyms":["Syndroom van Wellesley-Carman-French"],"definition":"Een syndroom, gekenmerkt door cataract en kleine gestalte, geassocieerd met variabele anomalieën, waaronder afwijkend oraal frenulum, een kenmerkend gelaat (naar achteren gedraaide oren, schuin naar boven hellende ooglidspleten, kleine neus, ptosis, en epicanthusplooien), caverneuze hemangiomen, en hernia's. Het werd beschreven bij een moeder en haar twee kinderen, en wordt overgedragen als een autosomaal dominant kenmerk."},"pt":{"name":"Síndrome de catarata-freio oral aberrante-atraso de crescimento","synonyms":["Síndrome Wellesley-Carmen-French"]},"pl":{"name":"Zaćma - nieprawidłowe wędzidełko języka - opóźnienie wzrostu","synonyms":["Zespół Wellesley'a, Carmana i Frencha"]},"cs":{"name":"Syndrom zahrnující kataraktu, aberantní orální frenulum a opožděný růst","synonyms":["Wellesleyové-Carmanův-Frenchův syndrom","Wellesley-Carman-Frenchův syndrom"]},"uk":{"name":"Синдром катаракти - аномальної вуздечки порожнини рота - затримки росту","synonyms":["Синдром Веллеслі-Кармана-Френча"],"definition":"Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait."},"zh":{"name":"白内障-口腔系带异常-生长迟缓综合征","synonyms":["Wellesley-Carman-French综合征"]},"tr":{"name":"Katarakt-anormal oral frenula-büyüme geriliği sendromu","synonyms":["Wellesley-Carman-Fransız sendromu"]}},"xrefs":[{"source":"OMIM","code":"115645","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007277","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274900","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5554","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1951441[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1951441[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null}]}}