/orofaciodigital syndrome

orofaciodigital syndrome

Rare Disease

MONDO:0015375

Also Known As

OFDOral-Facial-Digital Syndromeoral-facial-digital syndromeorofaciodigital syndromeoral facial digital syndromesoral-facial-digital syndromesorofaciodigital syndromes

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.