{"orpha":93946,"name":"Hamel cerebro-palato-cardiac syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93946/","orphanet_url":"https://www.orpha.net/en/disease/detail/93946","names":{"fr":{"name":"Syndrome cérébro-palato-cardiaque d'Hamel","definition":"Le syndrome cérébro-palato-cardiaque d'Hamel est un syndrome de déficit intellectuel lié à l'X caractérisé par un déficit intellectuel, une microcéphalie et une petite taille. Il fait partie du groupe de maladies rassemblées sous le syndrome de Renpenning."},"de":{"name":"Zerebro-palato-kardiales Syndrom Hamel","definition":"Das Zerebro-palato-kardiale Syndrom Typ Hamel zählt zur Gruppe der Syndrome mit X-chromosomaler geistiger Retardierung (XLMR; s. dort) und ist gekennzeichnet durch geistige Retardierung, Mikrozephalie und Kleinwuchs. Es gehört zur Gruppe der Krankheiten, die unter der Diagnose eines Renpenning-Syndroms (s. dort) zusammengefasst werden."},"es":{"name":"Síndrome cerebro-palato-cardíaco de Hamel","definition":"Es un síndrome de discapacidad intelectual ligado al X (XMLR, por sus siglas en inglés), caracterizado por déficit intelectual, microcefalia y talla baja. Pertenece a un grupo de trastornos denominados colectivamente como síndrome de Renpenning."},"it":{"name":"Sindrome cerebro-palato-cardiaca di Hamel","definition":"La sindrome cerebro-palato-cardiaca di Hamel è una sindrome da ritardo mentale legato all'X (XLMR; si veda questo termine), caratterizzata da deficit cognitivo, microcefalia e bassa statura. Appartiene al gruppo delle malattie che fanno riferimento alla sindrome di Renpenning (si veda questo termine)."},"nl":{"name":"Cerebro-palato-cardiaal syndroom van Hamel","definition":"Een X-gebonden syndromale intellectuele beperking (XLMR), gekarakteriseerd door intellectuele achterstand, microcefalie en kleine gestalte. Het behoort tot de groep van aandoeningen waarnaar collectief verwezen wordt als syndroom van Renpenning."},"pt":{"name":"Síndrome de Hamel cerebro-palato-cardíaco","definition":"A Síndrome de Hamel cérebro-palato-cardíaco é uma síndrome de deficiência intelectual ligada ao cromossoma X (AMLX, ver este termo), caracterizada por deficiência intelectual, microcefalia e baixa estatura. Ela pertence ao grupo de doenças que coletivamente são referenciadas como síndrome de Renpenning (ver este termo)."},"pl":{"name":"Zespół mózgowo-podniebienno-sercowy Hamela","definition":"Zespół mózgowo-podniebienno-sercowy Hamela jest zespołem niepełnosprawności intelektualnej, sprzężonej z chromosomem X (XLMR; zob. to hasło), charakteryzującym się niepełnosprawnością intelektualną, mikrocefalią oraz niskim wzrostem. Należy do grupy zaburzeń, zwanych łącznie zespołem Renpenninga."},"cs":{"name":"Hamelův cerebropalatokardiální syndrom"},"uk":{"name":"Церебропалатокардіальний синдром Гамеля","definition":"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome."},"zh":{"name":"Hamel脑-腭-心综合征","definition":"一种以智力缺陷、小头和身材矮小为特征的X染色体连锁遗传智力障碍综合征（XLMR）。它属于统称为Renpenning综合征的一组疾病。"},"tr":{"name":"Hamel serebro-palato-kardiyak sendrom"}},"xrefs":[{"source":"OMIM","code":"309500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1903143844"},{"source":"MONDO","code":"0019767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681615","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3242,"name":"Renpenning syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PQBP1","name":"polyglutamine binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9330","ensembl":"ENSG00000102103","omim":"300463","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}