Rabson-Mendenhall syndrome


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.