{"orpha":3103,"name":"Roberts syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudothalidomide syndrome","Roberts-SC phocomelia syndrome","SC phocomelia","SC pseudothalidomide syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of highly variable limb reduction defects affecting both upper and lower limbs, growth retardation, microcephaly, craniofacial anomalies and variable neurodevelopmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3103/","orphanet_url":"https://www.orpha.net/en/disease/detail/3103","names":{"fr":{"name":"Syndrome de Roberts","synonyms":["Phocomélie SC","Syndrome de phocomélie SC de Roberts","Syndrome pseudothalidomide","Syndrome pseudothalidomide SC"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, caractérisé par l'association d'anomalies très inconstantes à type de raccourcissement des membres supérieurs et inférieurs, de retard de croissance, de microcéphalie, d'anomalies craniofaciales et de retard variable du développement neurologique."},"de":{"name":"Roberts-Syndrom","synonyms":["Pseudothalidomid-Syndrom","Roberts-SC-Phokomelie-Syndrom","SC-Phokomelie","SC-Pseudothalidomid-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch die Kombination von sehr unterschiedlichen Fehlbildungen mit Verkürzung der oberen und unteren Gliedmaßen, Wachstumsverzögerung, Mikrozephalie, kraniofazialen Anomalien und unterschiedlicher neurologischer Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Síndrome de Roberts","synonyms":["SC focomelia","Síndrome de Roberts-SC focomelia","Síndrome pseudotalidomida","Síndrome pseudotalidomida SC"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente que se caracteriza por la asociación de defectos muy variables por reducción de extremidades que afectan tanto a los miembros superiores como a los inferiores, retraso del crecimiento, microcefalia, anomalías craneofaciales y retraso variable del neurodesarrollo."},"it":{"name":"Sindrome di Roberts","synonyms":["SC focomelia","Sindrome da focomelia SC di Roberts","Sindrome pseudo-talidomide","Sindrome pseudo-talidomide SC"]},"nl":{"name":"Syndroom van Roberts","synonyms":["Pseudothalidomidesyndroom","Roberts-SC-focomeliesyndroom","SC-focomelie","SC-pseudothalidomidesyndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door de associatie van zeer variabele ledemaatreductiedefecten die bovenste en onderste ledematen aantasten, groeiretardatie, microcefalie, craniofaciale anomalieën, en variabele neurologische ontwikkelingsachterstand."},"pt":{"name":"Síndrome Roberts","definition":"A síndrome de Roberts (RBS) é caracterizada por atraso do crescimento pré e pós-natal, defeitos de redução graves e simétricos dos membros, anomalias craniofaciais e atraso mental grave. A focomelia SC é uma forma mais ligeira de RBS."},"pl":{"name":"Zespół Robertsa","synonyms":["SC spół pseudotalidomidowy","SC fokomelia","Zespół pseudotalidomidowy","Zespół Robertsa - S.C. fokomelia"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny charakteryzujący się współwystępowaniem bardzo zmiennych wad redukcyjnych kończyn, zarówno górnych, jak i dolnych, zahamowaniem wzrostu, małogłowiem, anomaliami twarzoczaszki i zaburzeniami neurorozwojowymi o różnym nasileniu."},"cs":{"name":"Robertsův syndrom","synonyms":["Pseudothalidomidový syndrom","Syndrom Robertsovy-SC fokomélie","SC fokomélie","SC pseudothalidomidový syndrom"]},"uk":{"name":"Синдром Робертса","synonyms":["Псевдоталідомідний синдром","Синдром фокомелії Робертса-SC","Фокомелія SC","Синдром псевдоталідоміда SC"],"definition":"Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS."},"zh":{"name":"Roberts综合征","synonyms":["Roberts-SC短肢畸形综合征"]},"tr":{"name":"Roberts sendromu","synonyms":["SC phocomelia","Psödotalidomit sendromu","SC psödotalidomid sendromu","Roberts-SC fokomeli sendromu"]}},"xrefs":[{"source":"OMIM","code":"268300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2130958672"},{"source":"MONDO","code":"0100253","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100253","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0392475","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7387","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084326","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":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98648,"name":"Musculoskeletal disease with cataract","classifications":[156,189]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"ESCO2","name":"establishment of sister chromatid cohesion N-acetyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301332[PMID]","hgnc":"27230","ensembl":"ENSG00000171320","omim":"609353","loci":["8p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"20301332[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301332[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","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:0009943","label":"Complete duplication of thumb phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005011","label":"Mesomelic arm shortening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009466","label":"Radial deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000387","label":"Absent earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007452","label":"Midface capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005876","label":"Progressive flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Occasional (29-5%)","criteria":null}]}}