/orofaciodigital syndrome 18

orofaciodigital syndrome 18

Rare Disease

MONDO:0054770

Also Known As

OFD18Ofds 18oral-facial-digital syndrome type 18oral-facial-digital syndrome with short stature and brachymesophalangyorofaciodigital syndrome XVIIIorofaciodigital syndrome type 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.