Rabson-Mendenhall syndrome


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Rabson-Mendenhall syndrome

An autosomal recessive disorder (OMIM:262190) characterised by pineal hyperplasia, intrauterine growth retardation; short stature; abnormalities of the head, face, teeth and nails; skin defects (e.g., acanthosis nigricans), hypertrophy of adipose and muscular tissue; phallic enlargement; and severe insulin-resistant diabetes, which may respond to IGF-1.

Molecular pathology
Defects of INSR, which encodes the insulin receptor, cause Rabson-Mendenhall syndrome.

Rabson-Mendenhall syndrome

A condition characterized by DM, insulin resistance, pineal body hypertrophy, adrenal cortical hyperplasia

Mendenhall,

Edgar N., U.S. family practitioner, 1891-1970.
Rabson-Mendenhall syndrome - see under Rabson

Rabson,

Salem M., U.S. pathologist, 1901-1984.
Rabson-Mendenhall syndrome - diabetes mellitus that is insulin resistant.
References in periodicals archive ?
Insulin receptor (INSR) is the gene responsible for a series of insulin resistance diseases, including hyperinsulinemic hypoglycemia, familial 5 [Online Mendelian Inheritance in Man (OMIM)#609968], Donohue syndrome [(DS), also called leprechaunism; OMIM#246200] and Rabson-Mendenhall syndrome [(RMS); OMIM#262190].
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I.
Mutation of the insulin receptor gene is responsible for Rabson-Mendenhall syndrome (RMS) which is an autosomal recessive disorder.
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
Rabson-Mendenhall syndrome is another phenotype of this condition.
Such extreme insulin resistance is seen in patients with Donohue syndrome (or leprechaunism [104, 105]) and Rabson-Mendenhall syndrome [14].
Moran et al., "Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective," Medicine, vol.
Differential diagnosis in the infant include: short syndrome, neonatal progeroid syndrome, neurometabolic lysosomal storage disorder (Gaucher type 2, Krabbe disease), Russell diencephalic syndrome; in older children, Dunningan lipodistrophy, Rabson-Mendenhall syndrome, insulin-dependent diabetes mellitus; and in adults, Barraquer-Simons syndrome, AIDS, partial lipodistrophy and Lawrence syndrome (9).
Rabson-Mendenhall syndrome (RMS) is an intermediate form of insulin resistance syndrome since the function of insulin receptor is only moderately reduced.
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
Rabson-Mendenhall syndrome. Pediatr Dermatol 2002;19:267-270.
Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder resulting in severe insulin resistance due to defects in signaling through the insulin receptor.