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GTR Home > Conditions/Phenotypes > Acroosteolysis-keloid-like lesions-premature aging syndrome

Acroosteolysis-keloid-like lesions-premature aging syndrome

Synonyms
Premature aging syndrome, Penttinen type; Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly; Progeroid syndrome, Penttinen type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR-1, PDGFR1, PENTT, PDGFRB
    Summary: platelet derived growth factor receptor beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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