{"orpha":990,"name":"Agnathia-holoprosencephaly-situs inversus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-990/","orphanet_url":"https://www.orpha.net/en/disease/detail/990","names":{"fr":{"name":"Syndrome d'agnathie-holoprosencéphalie-situs inversus","definition":"Association syndromique extrêmement rare et létale, caractérisée par l'absence de la mandibule, des malformations cérébrales et des anomalies faciales liées à un défaut de clivage du cerveau à un stade embryonnaire (par exemple synophtalmie, oreilles malformées d'implantation basse, fusionnées sur la ligne médiane [(otocephalie]), agénésie des bulbes olfactifs, microstomie, hypoglossie/aglossie) et situs inversus partiel ou total."},"de":{"name":"Agnathie-Holoprosenzephalie-Situs inversus-Syndrom"},"es":{"name":"Síndrome de agnatia-holoprosencefalia-situs inversus","definition":"Es una asociación sindrómica muy poco frecuente y fatal caracterizada por la ausencia de mandíbula, malformaciones cerebrales con anomalías faciales relacionadas con un defecto en el desarrollo del cerebro embrionario (p. ej., sinoftalmia, orejas malformadas y de implantación baja fusionadas en la línea media (otocefalia), agenesia de los bulbos olfativos, microstomía, hipoglosia/ aglosia) y situs inversus parcial o total."},"it":{"name":"Agnatia - oloprosencefalia - situs inversus","definition":"L'agnazia-oloprosencefalia-situs inversus è una sindrome letale molto rara caratterizzata dall'assenza della mandibola, malformazioni cerebrali, dimorfismi facciali causati da un difetto nel clivaggio nel cervello embrionale (sinoftalmia, orecchie malformate, a bassa attaccatura, fuse sulla linea mediana [octocefalia], agenesia dei bulbi olfattivi, microstomia, ipoglossia/aglossia) e situs inversus parziale o totale."},"nl":{"name":"Agnathie - holoprosencefalie - situs inversus-syndroom","definition":"Een uiterst zeldzame en fatale associatie van syndromen, gekarakteriseerd door afwezigheid van de onderkaak, cerebrale malformaties met faciale anomalieën gerelateerd aan een defect bij het splitsen van de embryonale hersenen (e.g. synoftalmie, misvormde en laagstaande oren die op de middellijn gefuseerd zijn (otocefalie), agenesie van bulbus olfactorius (reukkolf), microstomie, hypoglossie/aglossie) en gedeeltelijke of volledige situs inversus."},"pt":{"name":"Síndrome de agnatia-holoprosencefalia-situs inversus"},"pl":{"name":"Brak żuchwy - holoprozencefalia - odwrotne ułożenie trzewi"},"cs":{"name":"Syndrom zahrnující agnatii, holoprosencefalii a situs inversus","synonyms":["Syndrom zahrnující chybění brady, holoprosencefalii a situs inversus"]},"uk":{"name":"Синдром агнатії-голопрозенцефалії-зворотного розташування","definition":"An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis."},"zh":{"name":"无颌-前脑无裂畸形-转位综合征"},"tr":{"name":"Agnati-holoprosensefali-situs inversus sendromu"}},"xrefs":[{"source":"OMIM","code":"202650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008740","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302678","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9126","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[{"symbol":"PRRX1","name":"paired related homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21294718[PMID]","hgnc":"9142","ensembl":"ENSG00000116132","omim":"167420","loci":["1q24.2"]},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"22577225[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"20849990[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100596","label":"Absent nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009924","label":"Aplasia/Hypoplasia involving the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009939","label":"Mandibular aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011386","label":"Narrow internal auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100663","label":"Synotia","frequency":"Very frequent (99-80%)","criteria":null}]}}