Progeroid syndrome, Petty type

Orpha code: 2963OMIM code: 612289

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Fontaine progeroid syndrome
Zespół Petty
Zespół Petty, Laxova i Wiedemanna
Petty syndrome
Petty-Laxova-Wiedemann syndrome
Kod ORPHA
2963
Kod OMIM
612289
Kod ICD10
E34.8
Kod ICD11
-

No additional description.

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