Spondyloepimetaphyseal dysplasia, Shohat type

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Synonyms: SEMD, Shohat type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Spondyloepimetaphyseal dysplasia, Shohat type?

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