spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (DOID:0112305)
Alliance: disease page
Synonyms: SMD with bowed forearms and facial dysmorphism; spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Alt IDs: OMIM:607543, MESH:C535791, ORDO:168552, UMLS_CUI:C1843706
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.