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ORPHA:125· ICD-10 Q82.8· Bloom syndrome

Визначення(English summary)

Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Antenatal, Neonatal