Progeroid syndrome, Petty type

Orpha code: 2963OMIM code: 612289

Definition

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
Classification

Malformation syndrome

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

No additional description.

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