{"orpha":3469,"name":"XK aprosencephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Garcia-Lurie syndrome","XK syndrome","XK-aprosencephaly"],"definition":"A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3469/","orphanet_url":"https://www.orpha.net/en/disease/detail/3469","names":{"fr":{"name":"Syndrome d'aprosencéphalie XK","synonyms":["Aprosencéphalie-XK","Syndrome de Garcia-Lurie"],"definition":"Syndrome rare avec malformation cérébrale caractérisé par une aprosencéphalie (absence de télencéphale et de diencéphale), des anomalies oculo-faciales (hypotélorisme ou cyclopie, malformation/absence de structures du nez, fente labiale), des malformations des segments préaxiaux des membres (hypoplasie des mains, absence de gros orteils) et diverses autres anomalies, notamment des organes génitaux ambigus, une imperforation anale et des anomalies vertébrales. Le mode de transmission semble être autosomique récessif."},"de":{"name":"XK-Aprosenzephalie-Syndrom","synonyms":["Atelenzephalie","Garcia-Lurie-Syndrom","XK-Aprosenzephalie","XK-Syndrom"],"definition":"Eine seltene syndromale Form der zerebralen Fehlbildung, die durch Aprosenzephalie (Fehlen von Telenzephalon und Diencephalon), okulo-faziale Anomalien (d. h. okulärer Hypotelorismus oder Zyklopie, Fehlbildung/Fehlen von Nasenstrukturen, Lippenspalte), präaxiale Gliedmaßendefekte (hypoplastische Hände, fehlende Großzehen) und verschiedene andere Anomalien einschließlich zweideutiger Genitalien, Analatresie und Wirbelanomalien gekennzeichnet ist. Es wird angenommen, dass das Syndrom autosomal-rezessiv vererbt wird."},"es":{"name":"Síndrome de aprosencefalia XK","synonyms":["Aprosencefalia XK","Síndrome XK","Síndrome de Garcia-Lurie"],"definition":"Es un síndrome muy poco frecuente de malformación cerebral caracterizado por aprosencefalia (ausencia de telencéfalo y diencéfalo), anomalías oculo-faciales (hipotelorismo ocular o ciclopía, malformación / ausencia de estructuras nasales, labio leporino), defectos preaxiales en las extremidades (manos hipoplásicas, halluces ausentes) y varias anomalías adicionales incluyendo genitales ambiguos, ano imperforado y anomalías vertebrales. Se cree que el síndrome sigue un patrón de herencia autosómico recesivo."},"it":{"name":"Sindrome XK dell'aprosencefalia/aprosencefalia XK","synonyms":["Atelencefalia"],"definition":"L'aprosencefalia XK è una malformazione cerebrale sindromica molto rara, caratterizzata da aprosencefalia (assenza del telencefalo e del diencefalo), anomalie oculo-facciali (ipotelorismo oculare o ciclopia, malformazione/assenza delle strutture nasali, labioschisi), difetti preassiali degli arti (ipoplasia delle mani, aplasia degli alluci) e altre anomalie come i genitali ambigui, l'ano imperforato e le anomalie vertebrali. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"XK-aprosencefalie-syndroom","synonyms":["Syndroom van Garcia-Lurie","XK-aprosencefalie","XK-syndroom"],"definition":"Een zeldzaam syndromaal type van cerebrale malformatie, gekarakteriseerd door aprosencefalie (afwezigheid van telencefalon en diëncefalon), oculo-faciale anomalieën (i.e. oculair hypotelorisme of cyclopie, malformatie/afwezigheid van nasale structuren, gespleten lip), pre-axiale ledemaatdefecten (i.e. hypoplastische handen, afwezige halluces) en verscheidene andere anomalieën waaronder ambigue genitaliën, anusatresie, en vertebrale anomalieën. Het syndroom heeft vermoedelijk een autosomaal recessief overervingspatroon."},"pt":{"name":"Síndrome de aprosencefalia XK","synonyms":["Aprosencefalia-XK","Síndrome Garcia-Lurie","Síndrome XK"]},"pl":{"name":"XK brak przodomózgowia","synonyms":["Atelencephaly","Zespół Garcia i Lurie"]},"cs":{"name":"XK aprozencefalie","synonyms":["Atelencefalie","Garciaův-Lurieho syndrom","Garcia-Lurieho syndrom"]},"uk":{"name":"Синдром апрозенцефалії XK","synonyms":["Синдром Гарсіа-Люрі","XK-синдром","XK-апросенцефалія"],"definition":"A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance."},"zh":{"name":"XK脑前部缺无综合征","synonyms":["Garcia-Lurie综合征"]},"tr":{"name":"XK aprosensefali sendromu","synonyms":["XK sendromu","XK-aprosensefali","Garcia-Lurie sendromu"]}},"xrefs":[{"source":"OMIM","code":"207770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1805259428"},{"source":"MONDO","code":"0008811","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795952","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"424","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":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2017-09-25","source":null,"terms":[{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}