Term Name: | spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism |
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Synonyms: | SMD with bowed forearms and facial dysmorphism, spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome |
Definition: | A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. |
Ontology: | Human Disease [DOID:0112305] ( DOID:0112305 ) |