Orofaciodigital syndrome
Orofaciodigital syndrome
Definition
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Also known as OFD, Oral-Facial-Digital Syndrome, orofaciodigital syndrome — per MONDO