Spondyloepimetaphyseal Dysplasia, Shohat Type (SEMDSH)

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OMIM 56 602557 MeSH 43 D010009 ICD10 via Orphanet 33 Q77.7 UMLS via Orphanet 72 C1865185

Orphanet 58 ORPHA93352 MedGen 41 C1865185 SNOMED-CT via HPO 68 113194005 16294009 205456006 22325002 237836003 237837007 249670005 249696007 254062008 258211005 27911000 289457006 298203008 299331007 301348000 41931001 422065006 50219008 60728008 74370006 74820003 80515008 93255008 95427009 more

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93352 Definition Spondyloepimetaphyseal 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. Epidemiology The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. Clinical description The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay. Etiology Autosomal 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, also known as semd, shohat type, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related and overgrowth syndrome. An important gene associated with Spondyloepimetaphyseal Dysplasia, Shohat Type is DDRGK1 (DDRGK Domain Containing 1). Affiliated tissues include bone and liver, and related phenotypes are short neck and abnormality of epiphysis morphology

OMIM : ⁵⁶ 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 distention with hepatosplenomegaly (summary by Egunsola et al., 2017). (602557)

UniProtKB/Swiss-Prot : ⁷³ 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

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Shohat Type

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