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Rabson-Mendenhall syndrome

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Disease definition

A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).

ORPHA:769

Classification level: Disorder

Prevalence: Unknown

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: E34.8

ICD-11: 5A44

OMIM: 262190

UMLS: C0271695

GARD: 226

Summary
Epidemiology

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.

Etiology

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).

Prognosis

Life expectancy may reach a few years.

Last update: January 2009 - Expert reviewer(s): Pr Corinne VIGOUROUX
A summary on this disease is available in Français (2009) Español (2009) Deutsch (2009) Italiano (2009) Nederlands (2009)
Detailed information
Disease review articles
Clinical genetics review
English (2018) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

The documents contained in this website 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.