" /> Rabson-Mendenhall Syndrome - CISMeF





Preferred Label : Rabson-Mendenhall Syndrome;

Alternative definition : NICHD: An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome.;

Details


You can consult :


Nous contacter.
28/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.