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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