Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

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Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

A rare genetic primary bone dysplasia disorder characterized by short stature hyperlordosis protuberant abdomen mild bilateral genu varum bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead hypertelorism flat nasal bridge). Radiographically moderate platyspondyly including posterior wedging with anterior bullet-shaped vertebral bodies with minimal metaphyseal abnormalities are observed.

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 May 2024

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