{"orpha":93317,"name":"Spondylometaphyseal dysplasia, Sedaghatian type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare spondylodysplastic dysplasia characterized by severe neonatal hypotonia, spondylometaphyseal dysplasia, cardiac arrhythmia, and central nervous system anomalies leading to death in the first days of life due to cardiorespiratory failure. Skeletal anomalies include irregular appearance of the iliac crest and bone, abnormal long bones of the extremities (including shortening, widening and cupping), and increased intervertebral disc space. Visceral anomalies include subendocardial myocarditis, myocardial necrosis, adrenal and pulmonary hemorrhage. Cranial magnetic resonance imaging reveals intracranial abnormalities such as simplified gyral pattern, hypogenesis of the corpus callosum, and cerebellar hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93317/","orphanet_url":"https://www.orpha.net/en/disease/detail/93317","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire type Sedaghatian","definition":"Dysplasie spondylo-dysplasique rare caractérisée par une hypotonie néonatale sévère, une dysplasie spondylométaphysaire, une arythmie cardiaque et des anomalies du système nerveux central entraînant le décès dans les premiers jours de vie en raison d'une insuffisance cardiorespiratoire. Les anomalies squelettiques comprennent une apparence irrégulière de la crête iliaque et de l'os iliaque, des malformations des os longs des membres (notamment des os raccourcis, élargis et creux en forme de coupe) et un élargissement de l'espace discal intervertébral. Les anomalies viscérales comprennent une myocardite sous-endocardique, une nécrose myocardique, ainsi que des hémorragies surrénaliennes et pulmonaires. L'imagerie par résonance magnétique crânienne révèle des anomalies intracrâniennes telles qu'une gyration simplifiée, une hypogénésie du corps calleux et une hypoplasie cérébelleuse."},"de":{"name":"Dysplasie, spondylometaphysäre, Typ Sedaghatian","definition":"Der Typ Sedaghatian der Spondylo-metaphysären Dysplasie ist eine neonatal-lethale Form mit schwerer metaphysärer Chondrodysplasie, leichter rhizomeler Verkürzung der Arme und leichter Platyspondylie."},"es":{"name":"Displasia espondilometafisaria tipo Sedaghatian","definition":"La displasia espondiloepifisaria (SEMD) de tipo Sedaghatian es una forma neonatal letal de displasia espondiloepisaria. Se caracteriza por: condrodisplasia metafisaria grave, acortamiento rizomélico leve de las extremidades superiores y platispondilia leve."},"it":{"name":"Displasia spondilometafisaria, tipo Sedaghatian"},"nl":{"name":"Spondylometafysaire dysplasie, Sedaghatian-type","definition":"Spondylometafysaire dysplasie (SEMD), Sedaghatian-type is een neonatale letale vorm van spondylometafysaire dysplasie, gekenmerkt door ernstige metafysaire chondrodysplasie, milde rhizomele verkorting van bovenste ledematen, en milde platyspondylie."},"pt":{"name":"Displasia espondilometafisária, tipo Sedaghatian","definition":"A displasia espondilometafisária (SEMD), tipo Sedaghatian é uma forma neonatal letal de displasia espondilometafisária caracterizada por condrodisplasia metafisária grave, ligeiro encurtamento rizomélico dos membros superiores, e ligeira platispondilia."},"pl":{"name":"Dysplazja kręgosłupowo-przynasadowa typu Sedaghatian"},"cs":{"name":"Spondylometafyzární dysplázie, Sedaghatianův typ"},"uk":{"name":"Спондилометафізарна дисплазія, тип Седагатіана","definition":"A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly."},"zh":{"name":"脊椎干骺端发育不良， Sedaghatian 型","definition":"Sedaghatian型脊椎干骺端发育不良（SEMD）是一种新生儿致死型脊椎干骺端发育不良，其特征是严重的干骺端软骨发育不良、上肢近端轻度短缩和轻度扁平椎骨。"},"tr":{"name":"Spondilometafizyal displazi, Sedaghat tipi"}},"xrefs":[{"source":"OMIM","code":"250220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"975738106"},{"source":"MONDO","code":"0009593","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535798","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855229","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4993","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GPX4","name":"glutathione peroxidase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24706940[PMID]","hgnc":"4556","ensembl":"ENSG00000167468","omim":"138322","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"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":"16892303[PMID]_24706940[PMID]","terms":[{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000782","label":"Abnormality of the scapula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006543","label":"Cardiorespiratory arrest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008786","label":"Iliac crest serration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003085","label":"Long fibula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004991","label":"Rhizomelic arm shortening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002657","label":"Spondylometaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null}]}}