Rabson–Mendenhall syndrome

Also known as: Insulin resistance syndrome type A variant

Severe insulin resistance with acanthosis, dental dysplasia and pineal hyperplasia.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Diabetes
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, childhood
Gene(s) involved: INSR

Etiology & mechanism

Recessive insulin receptor variants.

Gene(s) involved (1)

INSR

Symptoms & signs (6)

acanthosis nigricanscoarse faciesdental anomaliesketoacidosispineal hyperplasiasevere insulin resistance

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