Spondyloepimetaphyseal Dysplasia, Shohat Type

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OMIM 57 602557 Orphanet 59 ORPHA93352 UMLS via Orphanet 74 C1865185 ICD10 via Orphanet 34 Q77.7

MedGen 42 C1865185 MeSH 44 D010009 SNOMED-CT via HPO 69 258211005 301348000 95427009 249696007 22325002 27911000 298203008 16294009 80515008 113194005 254062008 74820003 299331007 74370006 93255008 41931001 60728008 289457006 237836003 237837007 422065006 205456006 249670005 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.Clinical descriptionThe long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay.EtiologyAutosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Shohat Type, is also known as semd, shohat type. An important gene associated with Spondyloepimetaphyseal Dysplasia, Shohat Type is DDRGK1 (DDRGK Domain Containing 1). Affiliated tissues include bone, and related phenotypes are short neck and abnormality of epiphysis morphology

OMIM : ⁵⁷ Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly (summary by Egunsola et al., 2017). (602557)

UniProtKB/Swiss-Prot : ⁷⁵ Spondyloepimetaphyseal dysplasia, Shohat type: An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly.

Clinical features from OMIM:

602557

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Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Shohat Type.