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Rabson-Mendenhall Syndrome
Abstract
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NORD is very grateful to Elaine Cochran, Nurse Practitioner, Lead Associate Investigator, National Institute of Diabetes Digestive and Kidney Diseases, Clinical Endocrinology Branch, National Institutes of Health, for assistance in the preparation of this report.
Synonyms of Rabson-Mendenhall Syndrome
- Mendenhall syndrome
Disorder Subdivisions
- No subdivisions found.
General Discussion
Rabson-Mendenhall syndrome is an extremely rare genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose (a simple sugar) into cells for energy production or into the liver and fat cells for storage.
Initial symptoms of Rabson-Mendenhall syndrome include abnormalities of the head and face (craniofacial region), abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans, a skin disorder characterized by abnormally increased coloration (hyperpigmentation) and "velvety" thickening (hyperkeratosis) of the skin, particularly of skin fold regions, such as of the neck, groin, and under the arms. In most cases, additional symptoms are present. Rabson-Mendenhall syndrome is inherited as an autosomal recessive trait.
Organizations related to Rabson-Mendenhall Syndrome
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