{"orpha":2136,"name":"Hennekam syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lymphedema-lymphangiectasia-intellectual disability syndrome"],"definition":"A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2136/","orphanet_url":"https://www.orpha.net/en/disease/detail/2136","names":{"fr":{"name":"Syndrome de Hennekam","synonyms":["Syndrome de lymphoedème-lymphangiectasie-déficience intellectuelle"],"definition":"Lymphoedème syndromique rare caractérisé par l'association d'un lymphoedème primaire, d'une lymphangiectasie intestinale, d'une déficience intellectuelle et de caractéristiques faciales inhabituelles."},"de":{"name":"Hennekam-Syndrom","synonyms":["Lymphödem-Lympangiektasie-Intelligenzminderung-Syndrom"],"definition":"Ein seltenes syndromales Lymphödem, das durch die Verbindung von primärem Lymphödem, intestinaler Lymphangiektasie, intellektuellem Defizit und auffälligen Gesichtszügen gekennzeichnet ist."},"es":{"name":"Síndrome de Hennekam","synonyms":["Síndrome de linfedema-linfangiectasia-discapacidad intelectual"],"definition":"Es un linfedema sindrómico poco frecuente caracterizado por la asociación de linfedema primario, linfangiectasia intestinal, déficit intelectual y características faciales inusuales."},"it":{"name":"Sindrome di Hennekam","synonyms":["Linfangectasia - linfedema, tipo Hennekam","Sindrome linfedema-linfangectasia-disabilità intellettiva"],"definition":"Si tratta di un linfedema sindromico raro, caratterizzato da linfedema primitivo, linfangectasia intestinale, deficit intellettivo e dismorfismi facciali."},"nl":{"name":"Syndroom van Hennekam","synonyms":["Lymfoedeem - lymfangiëctasie - intellectuele achterstand-syndroom"],"definition":"Een zeldzaam syndromaal lymfoedeem, gekarakteriseerd door de associatie van primair lymfoedeem, intestinale lymfangiëctasie, intellectuele achterstand en ongewone gelaatskenmerken."},"pt":{"name":"Síndrome Hennekam","synonyms":["Síndrome de linfedema-linfangiectasia-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół Hennekama","synonyms":["Obrzęk limfatyczny - limfangiektazja - niepełnosprawność intelektualna"]},"cs":{"name":"Hennekamův syndrom","synonyms":["Syndrom zahrnující lymfedém, lymfangiektázii a mentální retardaci"]},"uk":{"name":"Синдром Хеннекама","synonyms":["Синдром лімфедеми-лімфангіектазії-інтелектуальної недостатності"],"definition":"A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics."},"zh":{"name":"Hennekam综合征","synonyms":["淋巴水肿-淋巴管扩张-智力障碍综合征"]},"tr":{"name":"Hennekam sendromu","synonyms":["Lenfödem-lenfanjiektazi-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"235510","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616006","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618154","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"162216708"},{"source":"MONDO","code":"0016256","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537255","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340834","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3318","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]},{"orpha":568044,"name":"Primary lymphedema with systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"ADAMTS3","name":"ADAM metallopeptidase with thrombospondin type 1 motif 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28985353[PMID]","hgnc":"219","ensembl":"ENSG00000156140","omim":"605011","loci":["4q13.3"]},{"symbol":"CCBE1","name":"collagen and calcium binding EGF domains 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19935664[PMID]","hgnc":"29426","ensembl":"ENSG00000183287","omim":"612753","loci":["18q21.32"]},{"symbol":"FAT4","name":"FAT atypical cadherin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24913602[PMID]","hgnc":"23109","ensembl":"ENSG00000196159","omim":"612411","loci":["4q28.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"29560340[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29560340[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-15","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001055","label":"Erysipelas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100835","label":"Benign neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010310","label":"Chylothorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006521","label":"Pulmonary lymphangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Occasional (29-5%)","criteria":null}]}}