Orphanet: Acroosteolysis keloid like lesions premature aging syndrome
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Acroosteolysis-keloid-like lesions-premature aging syndrome

Disease 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.

ORPHA:363665

Classification level: Disorder
  • Synonym(s):
    • Premature aging syndrome, Penttinen type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E34.8
  • OMIM: 601812
  • UMLS: C1866182
  • MeSH: -
  • GARD: 4276
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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