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


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


Salem M., U.S. pathologist, 1901-1984.
Rabson-Mendenhall syndrome - diabetes mellitus that is insulin resistant.
References in periodicals archive ?
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).