Term Name: spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
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 )

Relationships
is a type of: spondylometaphyseal dysplasia