Donohue syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Donohue Syndrome (also known as Leprechaunism) is an extremely rare medical condition. It derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Facial features indicative of Leprechaunism include protuberant and low-set ears, flaring nostrils, and thick lips. Physical features include enlarged breasts and clitorises in females and enlarged penises in males, as well as severe growth retardation. Sufferers are resistant to insulin. Early death is usual.

Leprechaunism is an autosomal recessive genetic disorder. The mutations responsible for Leprechaunism are found on the short arm chromosome 19 (19p13.2) within the coding sequence of the INSR gene (insulin receptor) causing the production of inactive receptor molecules.

Leprechaunism was first identified in 1948 by Dr. W.L. Donohue.

See also

• Patterson pseudoleprechaunism syndrome
• Williams syndrome.

External links

• Online Mendelian Inheritance in Man (OMIM) 246200