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An autosomal recessive condition caused by mutation(s) in the INSR gene encoding the insulin receptor, and characterized by the following: insulin resistance; prenatal growth restriction and small for gestational age birth; small, elfin-like facies with protuberant ears; postnatal failure to thrive; relatively large hands, feet, and genitalia; muscle atrophy; and hypertrichosis. The condition is typically diagnosed early in life, with death usually occurring before age two years. The symptoms and course of this syndrome are the most severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigerians and Hyperandrogenism and Rapson-Mendenhall Syndrome.
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