{"orpha":589435,"name":"Spondylometaphyseal dysplasia-corneal dystrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SMD-corneal dystrophy syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589435/","orphanet_url":"https://www.orpha.net/en/disease/detail/589435","names":{"fr":{"name":"Syndrome de dysplasie spondylo-métaphysaire-dystrophie cornéenne","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard de développement avec déficience intellectuelle, un déficit de croissance post-natale entraînant un raccourcissement sévère des membres avec atteinte des segments proximaux et distaux, un thorax étroit, des malformations de la colonne vertébrale, du bassin et des métaphyses, une opacification de la cornée et une persistance du canal artériel. La dysmorphie faciale est à type d'hypertélorisme, d'yeux proéminents, de pont nasal déprimé et de nez court et retroussé."},"de":{"name":"Spondylometaphysäre Dysplasie-Hornhautdystrophie-Syndrom","synonyms":["SMD-Hornhautdystrophie-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine Entwicklungsverzögerung mit intellektueller Beeinträchtigung, einen postnatalen Wachstumsmangel, der zu einer starken Verkürzung der Gliedmaßen mit Beteiligung der proximalen und distalen Segmente führt, einen schmalen Brustkorb, Anomalien der Wirbelsäule, des Beckens und der Metaphysen, Hornhauttrübungen und einen offenen Ductus arteriosus gekennzeichnet ist. Zu den fazialen Dysmorphien gehören Hypertelorismus, hervortretende Augen, ein vertiefter Nasenrücken und eine kurze, nach oben gebogene Nase."},"es":{"name":"Síndrome de displasia espondilometafisaria-distrofia corneal","synonyms":["Síndrome de SMD-distrofia corneal"],"definition":"Es un síndrome dismórfico con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por un retraso del desarrollo con discapacidad intelectual, deficiencia del crecimiento posnatal que provoca un acortamiento grave de las extremidades con afectación de los segmentos proximal y distal, tórax angosto, anomalías de la columna vertebral, de la pelvis y de las metáfisis, opacidad corneal y ductus arterioso permanente. Los rasgos faciales dismórficos incluyen hipertelorismo, ojos prominentes, puente nasal deprimido y nariz corta y punta de la nariz elevada."},"it":{"name":"Sindrome da displasia spondilometafisaria e distrofia della cornea","synonyms":["Sindrome da DSM e distrofia della cornea"]},"nl":{"name":"Spondylometafysaire dysplasie - corneadystrofie-syndroom","synonyms":["SMD - corneadystrofie-syndroom"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door ontwikkelingsachterstand met intellectuele achterstand, postnatale groeideficiëntie die leidt tot ernstig lengtedefect van ledematen met betrokkenheid van proximale en distale segmenten, smalle borstkas, afwijkingen van wervelkolom, bekken en metafysen, hoornvliestroebeling, en persisterende ductus arteriosus. Dysmorfe gelaatskenmerken zijn onder meer hypertelorisme, prominente ogen, ingezakte neusbrug, en korte wipneus."},"pt":{"name":"Síndrome de displasia espondilometafisária-distrofia da córnea","definition":"Síndrome dismórfica/de anomalias congénitas múltiplas, genética e rara, caracterizada por atraso do desenvolvimento com perturbação do desenvolvimento intelectual, atraso de crescimento pós-natal causando encurtamento marcado dos membros com envolvimento dos segmentos proximais e distais, tórax estreito, anomalias da coluna, pélvis e metáfises, opacidades da córnea e canal arterial patente. As características faciais dismórficas incluem hipertelorismo, olhos proeminentes, ponte nasal deprimida e nariz curto e arrebitado."},"pl":{"name":"Zespół dysplazji kręgosłupowo-przynasadowej i dystrofii rogówki","synonyms":["SMD-corneal dystrophy syndrome"]},"cs":{"name":"Syndrom spondylometafyzální dysplázie a rohovkové dystrofie","synonyms":["SMD-corneal dystrophy syndrome"]},"uk":{"name":"Синдром спондилометафізарної дисплазії - дистрофії рогівки","synonyms":["Синдром дегенеративної дистрофії рогівки"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose."},"zh":{"name":"Spondylometaphyseal dysplasia-corneal dystrophy syndrome","synonyms":["SMD-corneal dystrophy syndrome"]},"tr":{"name":"Spondylometaphyseal dysplasia-corneal dystrophy syndrome","synonyms":["SMD-corneal dystrophy syndrome"]}},"xrefs":[{"source":"OMIM","code":"618961","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0030074","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":254,"name":"Spondylometaphyseal dysplasia","classifications":[147,156,199]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PLCB3","name":"phospholipase C beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29122926[PMID]","hgnc":"9056","ensembl":"ENSG00000149782","omim":"600230","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"29122926[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29122926[PMID]"}],"phenotypes":null}