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orofaciodigital syndrome 18

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.

Therapeutic area
Rare Disease
Rarity
Rare
Prevalence
~100k patients (est.)
MONDO
MONDO:0054770

Overview

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.

Content last reviewed: 2026-06