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Прогероїдний синдром, тип Петті

ORPHA:2963· ICD-10 E34.8· Progeroid syndrome, Petty type

Визначення(English summary)

Progeroid syndrome, Petty type is 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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Neonatal