Acroosteolysis-keloid-like lesions-premature aging syndrome

Orpha code: 363665OMIM code: 601812

Definition

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
Classification

Disease

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

No additional description.

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