Rabson-Mendenhall syndrome
ORPHA:769· ICD-10 E34.8
Definition
A subtype of INSR-related severe insulin-resistance syndrome characterized by intrauterine and postnatal growth delay, short stature, acanthosis nigricans, dental, hair and nail abnormalities, facial dysmorphism, organomegaly and major hyperinsulinemia with dysglycemia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal