Синдром внутрішньоутробної затримки росту-низькорослості-раннього дорослого діабету
ORPHA:436144· ICD-10 Q87.1· Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Визначення(English summary)
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Neonatal