National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Rabson-Mendenhall Syndrome is not the name you expected.
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. Infants are found to have very little fat, and there will be concern about failure to thrive, as the infant is not meeting weight standards on a growth chart, despite frequent feedings.
American Diabetes Association
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Genetic and Rare Diseases (GARD) Information Center
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March of Dimes
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NIH/Child Health and Human Development - Section on Endocrinology and Genetics
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NIH/National Institute of Child Health and Human Development
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 4/5/2016
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