Orofaciodigital syndrome 18

Definition

Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.

Also known as OFD18, Ofds 18, oral-facial-digital syndrome type 18, oral-facial-digital syndrome with short stature and brachymesophalangy, orofaciodigital syndrome type 18 — per MONDO

Also identified as

• DOID 0060961 per MONDO
• OMIM 617927 per MONDO
• Orphanet 508501 per MONDO
• UMLS C5567903 per MONDO