{"orpha":163649,"name":"Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondyloepiphyseal dysplasia, Nishimura type"],"definition":"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163649/","orphanet_url":"https://www.orpha.net/en/disease/detail/163649","names":{"fr":{"name":"Syndrome de dysplasie spondylo-épiphysaire-craniosynostose-fente palatine-cataracte-déficience intellectuelle","synonyms":["Dysplasie spondylo-épiphysaire, type Nishimura"]},"de":{"name":"Spondyloepiphysäre Dysplasie-Kraniosynostose-Gaumenspalte Katarakt-Intelligenzminderung-Syndrom","synonyms":["Dysplasie, spondyloepiphysäre, Typ Nishimura"]},"es":{"name":"Síndrome de displasia espondiloepifisaria-craneosinostosis-paladar hendido-cataratas-discapacidad intelectual","synonyms":["Displasia espondiloepifisaria tipo Nishimura"],"definition":"La displasia espondiloepifisaria tipo Nishimura está caracterizada por displasia espondiloepifisaria, craneosinostosis, cataratas, paladar hendido y déficit intelectual."},"it":{"name":"Sindrome displasia spondiloepifisaria-craniosinostosi-palatoschisi-cataratta-disabilità intellettiva","synonyms":["Displasia spondiloepifisaria, tipo Nishimura","Displasia spondiloepifisaria - craniosinostosi - palatoschisi - cataratta - deficit cognitivo"]},"nl":{"name":"Spondylo-epifysaire dysplasie - craniosynostose - gespleten gehemelte - cataract - intellectuele achterstand-syndroom","synonyms":["Spondylo-epifysaire dysplasie, Nishimura-type"],"definition":"Spondylo-epifysaire dysplasie, Nishimura-type, wordt gekenmerkt door spondylo-epifysaire dysplasie, craniosynostose, cataract, gespleten gehemelte, en intellectuele achterstand."},"pt":{"name":"Síndrome de displasia espondiloepifisária-craniosinostose-fenda palatina-cataratas-perturbação do desenvolvimento intelectual","synonyms":["Displasia espondiloepifisária, tipo Nishimura"]},"pl":{"name":"Dysplazja kręgowo-nasadowa, typ Nishimura","synonyms":["Dysplazja kręgowo-nasadowa - kraniosynostoza - rozszczep podniebienia - zaćma - niepełnosprawność intelektualna"]},"cs":{"name":"Spondyloepifyzární dysplázie, Nishimurův typ","synonyms":["Syndrom zahrnující spondyloepifyzární dysplázii, kraniosystózu, rozštěp patra, kataraktu a mentální retardaci"]},"uk":{"name":"Синдром спондилоепіфізарної дисплазії-краніосиностозу-розщілини піднебіння-катаракти- інтелектуальної недостатності","synonyms":["Спондилоепіфізарна дисплазія, тип Нішімура"],"definition":"Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit."},"zh":{"name":"Nishimura 型脊柱骨骺发育不良","synonyms":["脊柱骨骺发育不良-颅缝闭合-腭裂-白内障-智力障碍综合征"],"definition":"Nishimura型脊椎骨骺发育不良的特征是脊椎骨骺发育不良、颅缝早闭、白内障、腭裂和智力缺陷。"},"tr":{"name":"Spondiloepifizyal displazi, Nishimura tipi","synonyms":["Spondiloepifizyal displazi-kraniyosinostoz-yarık damak-katarakt-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"523290419"},{"source":"MONDO","code":"0011261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305147","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"9557884[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9557884[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-18","source":"9557884[PMID]","terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003366","label":"Abnormality of the femoral neck or head region","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002693","label":"Abnormality of the skull base","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011326","label":"Anterior plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006454","label":"Delayed patellar ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003071","label":"Flattened epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008783","label":"Wide proximal femoral metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011329","label":"Abnormality of cranial sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100558","label":"Hemiatrophy of upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007894","label":"Hypopigmentation of the fundus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002879","label":"Anisospondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}