Fontaine progeroid syndrome

MONDO:0012853

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: FPS, Fontaine progeroid syndrome, GCM syndrome, GCMS, Gorlin Chaudhry Moss syndrome, Gorlin-Chaudhry-Moss Syndrome, Gorlin-Chaudhry-Moss syndrome, Petty syndrome

11 clinical trials for this condition and its sub-types.

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