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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, Shohat type

Spondyloepimetaphyseal dysplasia, Shohat type

Synonyms
SEMD Shohat type

Summary

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). [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C20orf116, SEMDSH, UFBP1, dJ1187M17.3, DDRGK1
    Summary: DDRGK domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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