Acrocapitofemoral dysplasia

Definition

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Also known as acrocapitofemoral dysplasia — per MONDO

Also identified as

• DOID 0050604 per MONDO
• MESH C564334 per MONDO
• OMIM 607778 per MONDO
• Orphanet 63446 per MONDO
• SCTID 720416007 per MONDO
• UMLS C1843096 per MONDO