Pseudoleprechaunism syndrome, Patterson type

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Pseudoleprechaunism syndrome, Patterson type

Synonyms: Patterson pseudoleprechaunism syndrome | Patterson syndrome

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.

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 March 2024

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