Donohue syndrome
ORPHA:508· ICD-10 E34.8
Definition
A subtype of INSR-related severe insulin resistance characterized by severe intrauterine growth retardation, postnatal failure to thrive, dysmorphic features, extreme insulin resistance, fluctuating blood glucose levels. The life expectancy is very short, with death usually occurring during infancy due to metabolic complications, cardiomyopathy and/or infections.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal