Fontaine progeroid syndrome
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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015333
progeroid syndrome
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
FPS
exact
Fontaine progeroid syndrome
exact
GCM syndrome
exact
GCMS
exact
Gorlin Chaudhry Moss syndrome
exact
Gorlin-Chaudhry-Moss Syndrome
exact
Gorlin-Chaudhry-Moss syndrome
exact
Petty Laxova Wiedemann syndrome
related
Petty syndrome
exact
Petty-Laxova-Wiedemann syndrome
exact
craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence
exact
craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora
exact
craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies
related
craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
exact
cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
exact
dental and eye anomalies, patent ductus arteriosus, and normal intelligence
exact
dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
exact
progeroid syndrome Petty type
exact
progeroid syndrome congenital Petty type
exact
progeroid syndrome, Petty type
exact
progeroid syndrome, congenital, Petty type
narrow
SPBC12D12.05c