Acroosteolysis-keloid-like lesions-premature aging syndrome

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Synonyms: Premature aging syndrome, Penttinen type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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