{"orpha":97360,"name":"Robinow syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acral dysostosis with facial and genital abnormalities","Fetal face syndrome","Mesomelic dwarfism-small genitalia syndrome","Robinow dwarfism","Robinow-Silverman-Smith syndrome"],"definition":"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97360/","orphanet_url":"https://www.orpha.net/en/disease/detail/97360","names":{"fr":{"name":"Syndrome de Robinow","synonyms":["Dysostose acrale avec anomalies faciales et génitales","Nanisme type Robinow","Syndrome de Robinow-Silverman-Smith"],"definition":"Le syndrome de Robinow est un syndrome génétique rare caractérisé par un raccourcissement des membres avec anomalies de la tête, du visage et des organes génitaux."},"de":{"name":"Robinow-Syndrom","synonyms":["Robinow-Kleinwuchs","Robinow-Silverman-Smith-Syndrom","Akrale Dysostose - Gesichts- und Genitalanomalien","Fetal face-Syndrom","Mesomeler Kleinwuchs-kleine Genitalien-Syndrom"],"definition":"Das Robinow-Syndrom (RS), ein seltenes genetisches Syndrom, ist gekennzeichnet durch verkürzte Gliedmaßen und Anomalien von Kopf, Gesicht und äußerem Genitale."},"es":{"name":"Síndrome de Robinow","synonyms":["Disostosis acral con anomalías faciales y genitales","Enanismo de Robinow","Síndrome de Robinow-Silverman-Smith","Síndrome de cara fetal","Síndrome de enanismo mesomélico-genitales pequeños"],"definition":"El síndrome de Robinow (SR) es un síndrome genético raro caracterizado por acortamiento de las extremidades y anomalías en cabeza, cara y genitales externos."},"it":{"name":"Sindrome di Robinow","synonyms":["Disostosi acrale con anomalie facciali e genitali","Nanismo di Robinow","Sindrome del viso fetale","Sindrome di Robinow-Silverman-Smith","Sindrome nanismo mesomelico-genitali piccoli"]},"nl":{"name":"Syndroom van Robinow","synonyms":["Acrale dysostose met faciale en genitale anomalieën","Foetaal aangezichtsyndroom","Mesomele dwerggroei - kleine genitaliën-syndroom","Robinow-dwerggroei","Syndroom van Robinow-Silverman-Smith"],"definition":"Syndroom van Robinow (RS) is een zeldzaam genetisch syndroom, gekenmerkt door verkorting van ledematen en afwijkingen van hoofd, aangezicht en uitwendige geslachtsorganen."},"pt":{"name":"Síndrome de Robinow","definition":"A síndrome de Robinow (RS) é uma síndrome genética rara caracterizada por encurtamento de membros e anormalias do cranio, face e genitais externos."},"pl":{"name":"Zespół Robinowa","synonyms":["Dyzostoza kończyn z nieprawidłowościami twarzy i narządów płciowych","Niskorosłość Robinowa","Zespół niskorosłość mezomeliczna - małe narządy płciowe","Zespół Robinowa, Silvermana i Smitha"]},"cs":{"name":"Robinowův syndrom","synonyms":["Akrální dysostóza s faciálními a genitálními abnormalitami","Syndrom zahrnující mesomelické trpaslictví a malý genitál","Robinowovo trpaslictví","Syndrom fetální tváře","Robinowův-Silvermanův-Smithové syndrom","Robinow-Silverman-Smithové syndrom"]},"uk":{"name":"Синдром Робінова","synonyms":["Акральний дизостоз з аномаліями обличчя та геніталій","Синдром обличчя плода","Синдром мезомелічної карликовості - малих геніталій","Карликовість Робінова","Синдром Робінова-Сільвермана-Сміта"],"definition":"Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia."},"zh":{"name":"Robinow综合征","synonyms":["髋关节发育不良伴面部和生殖器异常"],"definition":"Robinow 综合征(RS)是一种罕见的遗传综合征，以肢体缩短和头面部及外生殖器异常为特征。"},"tr":{"name":"Robinow sendromu","synonyms":["Robinow cücelik","Fetal yüz sendromu","Robinow-Silverman-Smith sendromu","Mezomelik cücelik-küçük genitalya sendromu","Fasiyal ve genital anormallikler ile seyreden akral dizostoz"]}},"xrefs":[{"source":"OMIM","code":"180700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"268310","qualifier":"BTNT","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":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1010745722"},{"source":"MONDO","code":"0019978","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562492","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265205","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"312","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084325","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":3107,"name":"Autosomal dominant Robinow syndrome","type":"Clinical subtype"},{"orpha":1507,"name":"Autosomal recessive Robinow syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"NXN","name":"nucleoredoxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29276006[PMID]","hgnc":"18008","ensembl":"ENSG00000167693","omim":"612895","loci":["17p13.3"],"via":{"orpha":1507,"name":"Autosomal recessive Robinow syndrome"}},{"symbol":"ROR2","name":"receptor tyrosine kinase like orphan receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301418[PMID]","hgnc":"10257","ensembl":"ENSG00000169071","omim":"602337","loci":["9q22.31"],"via":{"orpha":1507,"name":"Autosomal recessive Robinow syndrome"}},{"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"],"via":{"orpha":3107,"name":"Autosomal dominant Robinow syndrome"}},{"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"],"via":{"orpha":3107,"name":"Autosomal dominant Robinow syndrome"}},{"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"],"via":{"orpha":3107,"name":"Autosomal dominant Robinow syndrome"}},{"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"],"via":{"orpha":3107,"name":"Autosomal dominant Robinow syndrome"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-04","source":"25577943[PMID]_20301418[PMID]","terms":[{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005011","label":"Mesomelic arm shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009611","label":"Bifid distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000060","label":"Clitoral hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000454","label":"Flared nostrils","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030039","label":"Fused thoracic vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010882","label":"Pulmonary valve atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006439","label":"Radioulnar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000207","label":"Triangular mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011662","label":"Tricuspid atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030264","label":"Webbed penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006291","label":"Marked delay in eruption of permanent teeth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null}]}}