{"orpha":424099,"name":"Colobomatous microphthalmia-rhizomelic dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microphthalmia-coloboma-rhizomelic skeletal dysplasia"],"definition":"Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424099/","orphanet_url":"https://www.orpha.net/en/disease/detail/424099","names":{"fr":{"name":"Syndrome de microphtalmie colobomateuse-dysplasie rhizomélique","synonyms":["Syndrome de microphtalmie-colobome-dysplasie rhizomélique"],"definition":"Un trouble génétique rare du développement survenant pendant l'embryogenèse. Il se caractérise par un ensemble d'anomalies du développement de l'oeil (incluant une anophtalmie, une microphtalmie, un colobome, une microcornée, une corectopie, une cataracte), ainsi qu'une rhizomélie symétrique des membres avec une petite taille, et des contractures au niveau des grosses articulations. Un déficit intellectuel avec des signes autistiques, une macrocéphalie, une dysmorphie, des anomalies urogénitales (hypospadias, cryptorchidie), une syndactylie cutanée et une puberté précoce peuvent aussi être présents."},"de":{"name":"Kolobomatöse Mikrophthalmie-rhizomele Dysplasie-Syndrom","synonyms":["Mikrophthalmie-Kolobom-rhizomele Skelettdysplasie-Syndrom"],"definition":"Ein seltener, genetischer Entwicklungsdefekt während der Embryogenese, der durch eine Reihe von Entwicklungsanomalien der Augen (einschließlich Anophthalmie, Mikrophthalmie, Kolobome, Mikrokornea, Korektopie, Katarakt) und symmetrische Rhizomelien der Gliedmaßen mit Kleinwuchs und Kontrakturen der großen Gelenke gekennzeichnet ist. Intelligenzminderung mit autistischen Merkmalen, Makrozephalie, dysmorphe Merkmale, urogenitale Anomalien (Hypospadie, Kryptorchismus), kutane Syndaktylie und vorzeitige Pubertät können ebenfalls vorhanden sein."},"es":{"name":"Síndrome de microftalmia colobomatosa-displasia rizomélica","synonyms":["Microftalmia-coloboma-displasia esquelética rizomélica"],"definition":"El síndrome de microftalmia colobomatosa-displasia rizomélica es un defecto del desarrollo durante la embriogénesis, genético y poco frecuente, que se caracteriza por una serie de anomalías del desarrollo ocular (que incluyen anoftalmia, microftalmia, colobomas, microcornea, corectopia, catarata) y rizomelia simétrica de la extremidad con talla baja y contractura de las grandes articulaciones. También pueden presentar discapacidad intelectual con rasgos autistas, macrocefalia, características dismórficas, anomalías urogenitales (hipospadias, criptorquidia), sindactilia cutánea y pubertad precoz."},"it":{"name":"Sindrome microftalmia colobomatosa-displasia rizomelica","synonyms":["Microftalmia - coloboma - displasia scheletrica rizomelica"],"definition":"La sindrome microftalmia colobomatosa - displasia rizomelica è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da anomalie dello sviluppo dell'occhio (anoftalmia, microftalmia, colobomi, microcornea, corectopia, cataratta) e rizomelia simmetrica degli arti associata a bassa statura e contratture delle grandi articolazioni. Possono associarsi disabilità intellettiva con tratti autistici, macrocefalia, dismorfismi, anomalie urogenitali (ipospadia, criptorchidismo), sindattilia cutanea e pubertà precoce."},"nl":{"name":"Colobomateuze microftalmie - rhizomele dysplasie-syndroom","synonyms":["Microftalmie - coloboom - rhizomele skeletdysplasie"],"definition":"Colobomateuze microftalmie - rhizomele dysplasie-syndroom is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door een scala aan anomalieën van de oogontwikkeling (waaronder anoftalmie, microftalmie, coloboom, microcornea, corectopie, cataract) en symmetrische rhizomele ledematen met kleine gestalte en contracturen van grote gewrichten. Intellectuele achterstand met autistische kenmerken, macrocefalie, dysmorfe kenmerken, urogenitale anomalieën (hypospadie, cryptorchidie), cutane syndactylie en vroegtijdige puberteit kunnen ook aanwezig zijn."},"pt":{"name":"Síndrome de microftlamia colobomatosa-displasia rizomélica"},"pl":{"name":"Zespół małoocza ze szczeliną gałki ocznej i dysplazji rizomelicznej","synonyms":["Małoocze - szczelina oka - dysplazja rizomeliczna"]},"cs":{"name":"Syndrom zahrnující mikroftalmii s kolobomy a rhizomelickou dysplázii","synonyms":["Mikroftalmie, kolobom a rhizomelická skeletální dysplázie"]},"uk":{"name":"Синдром колобоматозної мікрофтальмії-ризомелічної дисплазії","synonyms":["Мікрофтальмія-колобома-ризомелічна скелетна дисплазія"],"definition":"Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present."},"zh":{"name":"缺损性小眼球-肢根发育不良综合征","synonyms":["小眼球-眼球缺损-肢根发育不良"],"definition":"疣状小眼-肢体发育不良综合征是一种在胚胎发育过程中出现的罕见的遗传发育缺陷疾病。其特征是一系列眼部发育异常疾病（包括无眼畸形，小眼症，眼缺陷，小角膜，瞳孔异位，白内障）和对称的肢体短小和大关节挛缩。也可能存在智力障碍，包括自闭特征，巨颅畸形，畸形特征，泌尿生殖系统异常（尿道下裂，隐睾症），皮肤并指畸形和性早熟。"},"tr":{"name":"Kolobomatöz mikroftalmi-rizomelik displazi sendromu","synonyms":["Mikroftalmi-kolobom-rizomelik iskelet displazisi"]}},"xrefs":[{"source":"OMIM","code":"615877","qualifier":"E","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":"attributed","validated":true},{"source":"MONDO","code":"0014380","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","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":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"MAB21L2","name":"mab-21 like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24906020[PMID]","hgnc":"6758","ensembl":"ENSG00000181541","omim":"604357","loci":["4q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24906020[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24906020[PMID]"}],"phenotypes":null}