{"orpha":1507,"name":"Autosomal recessive Robinow syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["COVESDEM syndrome","Costovertebral segmentation defect-mesomelia syndrome","RRS"],"definition":"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1507/","orphanet_url":"https://www.orpha.net/en/disease/detail/1507","names":{"fr":{"name":"Syndrome de Robinow autosomique récessif","synonyms":["RRS","Syndrome COVESDEM","Syndrome d'anomalie de segmentation costovertébrale-mésomélie"],"definition":"Le syndrome de Robinow autosomique récessif (AR) est la forme la moins fréquente du syndrome de Robinow caractérisée par un nanisme à membres courts, des défauts de la segmentation costovertébrale et des anomalies de la tête, du visage et des organes génitaux."},"de":{"name":"Robinow-Syndrom, autosomal-rezessives","synonyms":["COVESDEM-Syndrom","RRS"],"definition":"Das autosomal-rezessive Robinow-Syndrom (RRS) ist der seltenere Typ des Robinow-Syndroms (s. dort) und gekennzeichnet durch kurzgliedrigen Kleinwuchs, costo-vertebrale Segmentierungsdefekte und Anomalien von Kopf, Gesicht und äußerem Genitale."},"es":{"name":"Síndrome de Robinow autosómico recesivo","synonyms":["Defecto de la segmentación costovertebral-mesomelia","RRS","Síndrome COVESDEM"],"definition":"El síndrome de Robinow autosómico recesivo es la forma menos frecuente de síndrome de Robinow (SR; ver término), y se caracteriza por enanismo de extremidades cortas, defectos de segmentación costovertebral y anomalías en cabeza, cara y genitales externos."},"it":{"name":"Sindrome di Robinow autosomica recessiva","synonyms":["Difetto della segmentazione costovertebrale - mesomelia","RRS","Sindrome COVESDEM"]},"nl":{"name":"Autosomaal recessief syndroom van Robinow","synonyms":["COVESDEM-syndroom","Costovertebraal segmentatiedefect - mesomelie-syndroom","RRS"],"definition":"Het minder gangbare type van syndroom van Robinow (RS), gekenmerkt door dwerggroei met korte ledematen, defecten van costovertebrale segmentatie, en afwijkingen van hoofd, aangezicht en uitwendige geslachtsorganen."},"pt":{"name":"Síndrome Robinow autossómica recessiva","synonyms":["Síndrome COVESDEM"],"definition":"A síndrome Robinow autossómica recessiva (RRS) é o tipo menos comum de síndrome Robinow (RS, ver este termo) caracterizada por nanismo de membros curtos, defeitos de segmentação costovertebral e anomalias da cabeça, face e genitais externos."},"pl":{"name":"Autosomalny recesywny zespół Robinowa","synonyms":["Defekt segmentacji żebrowo-kręgowej - mezomelia","RRS","Zespół COVESDEM"]},"cs":{"name":"Autozomálně recesivní Robinowův syndrom","synonyms":["COVESDEM syndrom","Syndrom zahrnující kostovertebrální poruchu segmentace a mesomelii","RRS"]},"uk":{"name":"Аутосомно-рецесивний синдром Робінова","synonyms":["Синдром дефекту костовертебральної сегментації - мезомелія","Синдром COVESDEM","RRS"],"definition":"Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia."},"zh":{"name":"常染色体隐性Robinow综合征","synonyms":["肋椎节段缺损-肢中综合征"]},"tr":{"name":"Otozomal resesif Robinow sendromu","synonyms":["RRS","COVESDEM sendromu","Kostovertebral segmentasyon defekti-mezomeli sendromu"]}},"xrefs":[{"source":"OMIM","code":"268310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618529","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":"793292660"},{"source":"MONDO","code":"0009999","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849334","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":"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"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:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","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:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012815","label":"Hypoplastic female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","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:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent 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