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Pseudoleprechaunism syndrome, Patterson type

Disease definition

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.

ORPHA:2976

  • Synonym(s):
    • Patterson pseudoleprechaunism syndrome
    • Patterson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: E34.8
  • OMIM: 169170
  • UMLS: C1868546
  • MeSH: C536310
  • GARD: 4259
  • MedDRA: -

Additional information

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