Rabson-Mendenhall syndrome

Common Name(s)

Rabson-Mendenhall syndrome

Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner.  Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rabson-Mendenhall syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rabson-Mendenhall syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Rabson-Mendenhall syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome
 

Author(s): Xiang Chen, Huijun Wang, Bingbing Wu, Xinran Dong, Bo Liu, Hongbo Chen, Yulan Lu, Wenhao Zhou, Lin Yang

Journal: J Clin Res Pediatr Endocrinol. 2018 06;10(2):183-187.

 

Mutations in the insulin receptor () gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). Insulin resistance is a feature of both diseases. Our patient was a Chinese neonate suffering from abnormal glucose homeostasis, hyperinsulinemia, dry skin, heavy ...

Last Updated: 31 Dec 1969

Go To URL
Syndrome of extreme insulin resistance (Rabson-Mendenhall phenotype) with atrial septal defect: clinical presentation and treatment outcomes.
 

Author(s): Deep Dutta, Indira Maisnam, Sujoy Ghosh, Satinath Mukhopadhyay, Subhankar Chowdhury

Journal: J Clin Res Pediatr Endocrinol. 2013 ;5(1):58-61.

 

Syndrome of extreme insulin resistance (SEIR) is a rare spectrum disorder with a primary defect in insulin receptor signalling, noted primarily in children, and is often difficult to diagnose due to the clinical heterogeneity.SEIR was diagnosed in an adolescent girl with facial dysmorphism,exuberant ...

Last Updated: 31 Dec 1969

Go To URL
Rabson-Mendenhall syndrome.
 

Author(s): J Gupta, Jonathan M Daniel, V Vasudevan

Journal: J Indian Soc Pedod Prev Dent. ;30(3):279-82.

 

Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder affecting insulin receptor. This disorder is characterized by insulin-resistant diabetes mellitus, hyperinsulinemia, deficiency of subcutaneous fat, acanthosis nigrican, growth retardation, coarse and senile appearance, ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Rabson-Mendenhall syndrome" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.