Fontaine progeroid syndrome
Fontaine progeroid syndrome
Definition
A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
Also known as craniofacial dysostosis-genital, dental, cardiac anomalies syndrome, craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome, dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, Fontaine progeroid syndrome, FPS, GCM syndrome, GCMS, Gorlin Chaudhry Moss syndrome, Gorlin-Chaudhry-Moss Syndrome, Petty syndrome, Petty-Laxova-Wiedemann syndrome, progeroid syndrome congenital Petty type, progeroid syndrome Petty type, progeroid syndrome, Petty type — per MONDO