Oculo-facio-cardio-dental (OFCD) syndrome.
Oculo-facio-cardio-dental syndrome consists of (1) eye anomalies: congenital cataract and microphthalmia, or secondary glaucoma, (2) facial abnormalities: (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate, (3) cardiac anomalies: atrial septal defect (ASD), ventricular septal defect (VSD), or floppy mitral valve; and (4) dental abnormalities: canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length. Other less common findings are: sensorineural hearing loss, septate vagina, and syndactyly of toes 2-3. Inheritance may be an X-linked dominant trait, lethal in the male.
Gorlin
R J
RJ
University of Minnesota, School of Dentistry, Minneapolis 55455, USA.
Marashi
A H
AH
Obwegeser
H L
HL
D000328:Adult; D002972:Cleft Palate / Q000235:genetics; D003481:Cuspid / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005804:Genes, Lethal; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics; D014621:Vagina / Q000002:abnormalities; D014960:X Chromosome