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Fontaine progeroid syndrome
rareA 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.
- Causal genes
- SLC25A24
- Part of
- Ectodermal dysplasia syndromeMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilityProgeroid syndrome
- Also known as
- craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora · craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence · craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies · craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
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