| Metadata | |
|---|---|
| ID | DOID:0112305 |
| Name | spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism |
| 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. https://pubmed.ncbi.nlm.nih.gov/12503112/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SMD with bowed forearms and facial dysmorphism [EXACT] spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [EXACT] |
| Parent Relationships |