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Spondyloepimetaphyseal dysplasia, Shohat type
rareA spondyloepimetaphyseal dysplasia 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.
- Identifiers
- MONDO:0011252 OMIM:602557Orphanet:93352
- Causal genes
- DDRGK1
- Part of
- Spondyloepimetaphyseal dysplasia
- Also known as
- SEMD Shohat type · SEMD, Shohat type · SEMDSH · spondyloepimetaphyseal dysplasia Shohat type
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