Disease - Fontaine progeroid syndrome
Definition
An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients.
Acronym
FPS
Synonyms
Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence
GCMS
Gorlin-Chaudhry-Moss syndrome
Progeroid syndrome, congenital, Petty type
GCMS
Gorlin-Chaudhry-Moss syndrome
Progeroid syndrome, congenital, Petty type
Disclaimer
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