{"orpha":280,"name":"Wolf-Hirschhorn syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["4p- syndrome","Distal deletion 4p","Distal monosomy 4p","Telomeric deletion 4p"],"definition":"A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280/","orphanet_url":"https://www.orpha.net/en/disease/detail/280","names":{"fr":{"name":"Syndrome de Wolf-Hirschhorn","synonyms":["Délétion télomérique 4p","Monosomie distale 4p","Syndrome 4p-","Délétion distale 4p"],"definition":"Anomalie du développement caractérisée par des traits faciaux évocateurs, un retard de croissance pré- et postnatale, une déficience intellectuelle, un retard psychomoteur sévère, des crises d'épilepsie et une hypotonie."},"de":{"name":"Wolf-Hirschhorn-Syndrom","synonyms":["Chromosom 4p- Syndrom","Deletion 4p, distale","Monosomie 4p, distale"],"definition":"Eine Entwicklungsstörung, die durch typische kraniofaziale Merkmale, pränatale und postnatale Wachstumsstörungen, Intelligenzminderung, schwere psychomotorische Entwicklungsverzögerungen, Krampfanfälle und Hypotonie gekennzeichnet ist."},"es":{"name":"Síndrome de Wolf-Hirschhorn","synonyms":["Deleción terminal 4p","Monosomía terminal 4p","Síndrome 4p-"],"definition":"Es un trastorno del desarrollo caracterizado por rasgos craneofaciales típicos, afectación del crecimiento pre-y posnatal, discapacidad intelectual, retraso del desarrollo psicomotor grave, crisis e hipotonía."},"it":{"name":"Sindrome di Wolf-Hirschhorn","synonyms":["Delezione 4p distale","Delezione 4p telomerica","Monosomia 4p distale","Sindrome 4p-"],"definition":"La sindrome di Wolf-Hirshhorn (WHS) è una malattia dello sviluppo caratterizzata da dismorfismi craniofacciali tipici, ritardo della crescita prenatale e postnatale, disabilità intellettiva, grave ritardo dello sviluppo psicomotorio, crisi epilettiche e ipotonia."},"nl":{"name":"Syndroom van Wolf-Hirschhorn","synonyms":["4p-syndroom","Distale deletie 4p","Distale monosomie 4p","Telomerische deletie 4p","Wolf-Hirschhornsyndroom"],"definition":"Een ontwikkelingsstoornis, gekenmerkt door typische craniofaciale kenmerken, prenatale en postnatale groeistoornis, intellectuele achterstand, ernstige psychomotorische ontwikkelingsachterstand, insulten, en hypotonie."},"pt":{"name":"Síndrome Wolf-Hirschhorn","synonyms":["Deleção 4p","Monossomia 4p"],"definition":"Doença do desenvolvimento caracterizada por características craniofaciais típicas, défice de crescimento pré e pós-natal, perturbação do desenvolvimento intelectual, atraso grave no desenvolvimento psicomotor, convulsões e hipotonia."},"pl":{"name":"Zespół Wolfa i Hirschorna","synonyms":["Delecja telomerowa 4p","Dystalna delecja 4p","Dystalna monosomia 4p","Zespół 4p-"],"definition":"Zaburzenie rozwojowe charakteryzujące się typowymi cechami twarzoczaszki, upośledzeniem wzrostu w okresie pre- i postnatalnym, niepełnosprawnością intelektualną, znacznym opóźnieniem rozwoju psychoruchowego, drgawkami i obniżeniem napięcia mięśniowego."},"cs":{"name":"Wolfův-Hirschhornův syndrom","synonyms":["Syndrom 4p-","Terminální delece 4p","Distální monozomie 4p","Telomerická delece 4p","Wolf-Hirschhornův syndrom"]},"uk":{"name":"Синдром Вольфа-Гіршхорна","synonyms":["4p-синдром","Дистальна делеція 4p","Дистальна моносомія 4p","Делеція теломерної ділянки 4p"],"definition":"A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia."},"zh":{"name":"Wolf-Hirschhorn综合征","synonyms":["4p末端缺失"]},"tr":{"name":"Wolf-Hirschhorn sendromu","synonyms":["4p sendromu","Distal delesyon 4p","Distal monozomi 4p","Telomerik delesyon 4p"]}},"xrefs":[{"source":"OMIM","code":"194190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD44.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1337401724"},{"source":"MONDO","code":"0008684","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1956097","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7896","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10050361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85291,"name":"X-linked intellectual disability, Wittwer type","status":"inactive"},{"type":"Moved to","orpha":98788,"name":"Pitt-Rogers-Danks syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"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":261884,"name":"Partial deletion of the short arm of chromosome 4 syndrome","classifications":[147,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[{"symbol":"NELFA","name":"negative elongation factor complex member A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"12768","ensembl":"ENSG00000185049","omim":"606026","loci":["4p16.3"]},{"symbol":"CPLX1","name":"complexin 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26239400[PMID]","hgnc":"2309","ensembl":"ENSG00000168993","omim":"605032","loci":["4p16.3"]},{"symbol":"CTBP1","name":"C-terminal binding protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26239400[PMID]","hgnc":"2494","ensembl":"ENSG00000159692","omim":"602618","loci":["4p16.3"]},{"symbol":"LETM1","name":"leucine zipper and EF-hand containing transmembrane protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"6556","ensembl":"ENSG00000168924","omim":"604407","loci":["4p16.3"]},{"symbol":"NSD2","name":"nuclear receptor binding SET domain protein 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"12766","ensembl":"ENSG00000109685","omim":"602952","loci":["4p16.3"]},{"symbol":"PIGG","name":"phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26239400[PMID]","hgnc":"25985","ensembl":"ENSG00000174227","omim":"616918","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"11480768[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"11480768[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-28","source":"20301362[PMID]","terms":[{"hpo":"HP:0000159","label":"Abnormal lip morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent 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frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007385","label":"Aplasia cutis congenita of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008830","label":"Hypoplastic pubic 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(29-5%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Occasional (29-5%)","criteria":null}]}}