Pseudoleprechaunism syndrome, Patterson type

Orpha code: 2976OMIM code: 169170

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.

Disease data
Classification

Malformation syndrome

Synonyms
Patterson pseudoleprechaunism syndrome
Patterson syndrome
ORPHA code
2976
OMIM code
169170
ICD10 code
E34.8
ICD11 code
-

No additional description.

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