Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Rabson-Mendenhall syndrome

Synonym(s) -
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
  • E13
  • C0271695
  • D056731
MedDRA -


Disease definition

Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).


It is an extremely rare disorder of unknown prevalence.

Clinical description

Early onset is marked by intrauterine and postnatal growth retardation, hypotrophy of muscle and adipose tissues, acanthosis nigricans (a skin lesion associated with extreme insulin resistance), dental dysplasia, abnormal hair and nails, hirsutism, and acromegaloid facies. A hypertrophic pineal gland has been reported in some cases.


As in leprechaunism (of which Rabson-Mendenhall syndrome may represent a less severe form); the condition is caused by anomalies in both alleles of the insulin-receptor gene (INSR;19p13.3-p13.2).

Diagnostic methods

Biologically, infants display fasting hypoglycemia, postprandial hyperglycemia and hyperinsulinemia, which progress to permanent hyperglycemia and recurrent diabetic ketoacidosis.

Differential diagnosis

Differential diagnoses include early-onset forms of leprechaunism, and moderate and late-onset forms of type A insulin resistance syndrome.

Genetic counseling

The condition is transmitted as an autosomal recessive trait and mainly affects children of consanguineous parents.

Management and treatment

Treatment is problematic and consists of high doses of insulin and/or recombinant insulin-like growth factor 1 (IGF1), sometimes associated with IGFBP3 (IGF binding protein).


Life expectancy may reach a few years.

Expert reviewer(s)

  • Pr Corinne VIGOUROUX

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.