{"orpha":2189,"name":"Hydrolethalus","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2189/","orphanet_url":"https://www.orpha.net/en/disease/detail/2189","names":{"fr":{"name":"Hydrolethalus","definition":"L'hydroléthalus est un syndrome malformatif foetal sévère caractérisé par une dysmorphie craniofaciale et des malformations du système nerveux central (SNC), cardiaques, pulmonaire et des membres."},"de":{"name":"Hydroletalus","definition":"Der Hydroletalus (HLS) ist ein schweres fetales Fehlbildungssyndrom mit kranionfazialen Dysmorphien und Fehlbildungen des Zentralnervensystems, des Herzens, der Atemwege und der Gliedmassen."},"es":{"name":"Síndrome hydrolethalus","synonyms":["Síndrome hidroletal"],"definition":"El síndrome hidroletal (SHL) es un cuadro polimarformativo grave fetal caracterizado por rasgos dismórficos craneofaciales y anomalías en el sistema nervioso central, corazón, vías respiratorias y extremidades."},"it":{"name":"Idroletale","definition":"La sindrome idroletale (HLS) è una grave patologia malformativa del feto caratterizzata da dismorfismi craniofacciali, anomalie del sistema nervoso centrale, delle vie respiratorie, degli arti e del cuore."},"nl":{"name":"Hydrolethalus","definition":"Hydrolethalus (HLS) is een ernstig foetaal misvormingssyndroom gekenmerkt door craniofaciale dysmorfe kenmerken en afwijkingen van centraal zenuwstelsel, hart, luchtwegen en ledematen."},"pt":{"name":"Hidroletal","definition":"A síndrome hidroletal (HLS) é uma síndrome malformativa fetal grave caracterizada por dismorfias craniofaciais, anomalias do sistema nervoso central, cardíacas, do trato respiratório e dos membros."},"pl":{"name":"Zespół Hydrolethalus"},"cs":{"name":"Hydroletální syndrom"},"uk":{"name":"Гідролеталіс","definition":"Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities."},"zh":{"name":"水中毒"},"tr":{"name":"Hidroletalus"}},"xrefs":[{"source":"OMIM","code":"236680","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1679283839"},{"source":"MONDO","code":"0006037","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536079","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931104","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6683","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"HYLS1","name":"HYLS1 centriolar and ciliogenesis associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15843405[PMID]_18648327[PMID]","hgnc":"26558","ensembl":"ENSG00000198331","omim":"610693","loci":["11q24.2"]},{"symbol":"KIF7","name":"kinesin family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21552264[PMID]","hgnc":"30497","ensembl":"ENSG00000166813","omim":"611254","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Finland","status":"Validated","source":"11152149[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Finland","status":"Not yet validated","source":"11152149[PMID]"},{"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":"2017-07-26","source":null,"terms":[{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030690","label":"Gingival cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100682","label":"Tracheal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100333","label":"Unilateral cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null}]}}