Acroosteolysis-keloid-like lesions-premature aging syndrome

Orpha code: 363665OMIM code: 601812

Definicja

A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

Disease data
Klasyfikacja

Disease

Synonimy
Premature aging syndrome, Penttinen type
Zespół przedwczesnego starzenia, typ Penttinena
Kod ORPHA
363665
Kod OMIM
601812
Kod ICD10
E34.8
Kod ICD11
-

No additional description.

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