Leprechaunism

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Disease Overview

Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.[7668][7669][7670]


Synonyms

  • Donohue syndrome

For more information, visit GARD.

National Organization for Rare Disorders