{"orpha":3107,"name":"Autosomal dominant Robinow syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3107/","orphanet_url":"https://www.orpha.net/en/disease/detail/3107","names":{"fr":{"name":"Syndrome de Robinow autosomique dominant","definition":"Le syndrome de Robinow autosomique dominant (AD) est la forme la plus fréquente du syndrome de Robinow caractérisée par un raccourcissement discret ou modéré des membres avec anomalies de la tête, du visage et des organes génitaux."},"de":{"name":"Robinow-Syndrom, autosomal-dominantes","definition":"Das autosomal-dominante Robinow-Syndrom (DRS) ist der häufigere Typ des Robinow-Syndroms (s. dort). Er ist gekennzeichnet durch leichte bis moderate Verkürzung der Gliedmaßen und Anomalien von Kopf, Gesicht und äußerem Genitale."},"es":{"name":"Síndrome de Robinow autosómico dominante","definition":"Es la forma más común de síndrome de Robinow (SR) caracterizada por un acortamiento de las extremidades entre leve y moderado, y anomalías en cabeza, cara y genitales externos."},"it":{"name":"Sindrome di Robinow autosomica dominante"},"nl":{"name":"Autosomaal dominant syndroom van Robinow","definition":"Het meer gangbare type van syndroom van Robinow (RS), gekenmerkt door milde tot matige verkorting van ledematen en afwijkingen van hoofd, aangezicht en uitwendige geslachtsorganen."},"pt":{"name":"Síndrome Robinow autossómica dominante","synonyms":["Síndrome da face fetal"],"definition":"A síndrome de Robinow autossómica dominante (DRS) é o tipo mais comum da síndrome de Robinow (RS, ver este termo), caracterizada por nanismo dos membros curtos, deficiências da segmentação costovertebral e anomalias do cranio, face e genitais externos."},"pl":{"name":"Autosomalny dominujący zespół Robinowa"},"cs":{"name":"Autozomálně dominantní Robinowův syndrom"},"uk":{"name":"Аутосомно-домінантний синдром Робінова","definition":"The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia."},"zh":{"name":"常染色体显性遗传Robinow综合征"},"tr":{"name":"Otozomal dominant Robinow sendromu"}},"xrefs":[{"source":"OMIM","code":"180700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616331","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616894","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"807338758"},{"source":"MONDO","code":"0008389","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5200540","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97360,"name":"Robinow syndrome","classifications":[147,156,181,199]}],"children":[],"genes":[{"symbol":"DVL1","name":"dishevelled segment polarity protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25817016[PMID]","hgnc":"3084","ensembl":"ENSG00000107404","omim":"601365","loci":["1p36.33"]},{"symbol":"DVL3","name":"dishevelled segment polarity protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26924530[PMID]","hgnc":"3087","ensembl":"ENSG00000161202","omim":"601368","loci":["3q27.1"]},{"symbol":"FZD2","name":"frizzled class receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29276006[PMID]","hgnc":"4040","ensembl":"ENSG00000180340","omim":"600667","loci":["17q21.31"]},{"symbol":"WNT5A","name":"Wnt family member 5A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19918918[PMID]","hgnc":"12784","ensembl":"ENSG00000114251","omim":"164975","loci":["3p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"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":"2017-06-21","source":"19918918[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly 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(79-30%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Occasional 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