Acroosteolysis-keloid-like lesions-premature aging syndrome
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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Acroosteolysis-keloid-like lesions-premature aging syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.