spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

Term ID

DOID:0112305

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. https://pubmed.ncbi.nlm.nih.gov/12503112/

References

• GARD:8719
• MESH:C535791
• OMIM:607543
• ORDO:168552
• UMLS_CUI:C1843706

Ontology

Human Disease   ( DOID:0112305 )