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Spondyloepimetaphyseal dysplasia, Irapa type
rareA spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
- Identifiers
- MONDO:0010076 OMIM:271650Orphanet:93351
- Part of
- Spondyloepimetaphyseal dysplasia
- Also known as
- SEMD, Irapa type · SEMDIT
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