{"orpha":2165,"name":"Holoprosencephaly-caudal dysgenesis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2165/","orphanet_url":"https://www.orpha.net/en/disease/detail/2165","names":{"fr":{"name":"Syndrome d'holoprosencéphalie-dysgénésie caudale","definition":"Syndrome avec malformation du système nerveux central caractérisé par une holoprosencéphalie avec microcéphalie, des anomalies morphologiques oculaires (hypotélorisme, cyclopie, exophtalmie), des anomalies nasales (narine unique ou absence de nez) et une fente labio-palatine, associés à des signes de régression caudale (agénésie sacrée, sirénomélie avec absence d'organes génitaux externes)."},"de":{"name":"Holoprosenzephalie - kaudale Dysgenesie"},"es":{"name":"Síndrome de holoprosencefalia-disgenesia caudal","definition":"Es un síndrome de malformación del sistema nervioso central caracterizado por holoprosencefalia con microcefalia, anomalías en la morfología ocular (hipotelorismo, ciclopía, exoftalmos), anomalías nasales (fosa nasal única o arrinia) y labio/paladar hendido, combinado con signos de regresión caudal (agenesia sacra, sirenomelia con genitales externos ausentes)."},"it":{"name":"Sindrome da oloprosencefalia e disgenesia caudale","definition":"La sindrome che associa l'oloprosencefalia e la disgenesia caudale è una malformazione del sistema nervoso centrale caratterizzata da oloprosencefalia, microcefalia, anomalie morfologiche dell'occhio (ipotelorismo, ciclopia, esoftalmo), anomalie del naso (narice unica o agenesia del naso) e labio/palatoschisi, associate ai segni clinici caratteristici della regressione caudale (agenesia sacrale, sirenomelia con agenesia dei genitali esterni)."},"nl":{"name":"Holoprosencefalie - caudale dysgenesie-syndroom","definition":"Holoprosencefalie - caudale dysgenesie-syndroom is een malformatiesyndroom van het centrale zenuwstelsel dat gekarakteriseerd wordt door holoprosencefalie met microcefalie, abnormale morfologie van de ogen (hypotelorisme, cyclopie, exophthalmus), neusanomalieën (slechts één neusgat of afwezigheid van de neus), en gespleten lip/verhemelte, in combinatie met tekenen van caudale regressie (sacrale agenesie, sirenomelie met afwezigheid van externe genitaliën)."},"pt":{"name":"Síndrome de holoprosencefalia-disgenesia caudal"},"pl":{"name":"Zespół holoprozencefalii i dysgenezji ogonowej","definition":"*Zespół holoprozencefalii i dysgenezji ogonowej (kaudalnej) jest zespołem wad rozwojowych ośrodkowego układu nerwowego, który charakteryzuje się holoprozencefalią z małogłowiem, nieprawidłowościami strukturalnymi oczu (hipoteloryzm, cyklopia, wytrzeszcz), wadami nosa (pojedyncze nozdrze lub brak nosa) oraz rozszczepem wargi/podniebienia, z towarzyszącymi objawami regresji kaudalnej (agenezja kości krzyżowej, częściowe lub całkowite zrośnięcie kończyn dolnych - sirenomelia z brakiem zewnętrznych narządów płciowych)."},"cs":{"name":"Syndrom zahrnující holoprosencefalii a kaudální dysgenezi"},"uk":{"name":"Синдром голопрозенцефалічного каудального дисгенезу","definition":"Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)."},"zh":{"name":"前脑无裂畸形-尾椎发育不全综合征"},"tr":{"name":"Holoprosensefali-kaudal disgenezi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q04.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016299","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749731","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Spain","status":"Validated","source":"7802035[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Spain","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010662","label":"Abnormality of the diencephalon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}