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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Bloom syndrome (facial telangiectasia dwarfism)

儿科综合

Common symptoms

咖啡斑、体重减轻、生长缓慢、下肢短缩

The pathology of disease

Bloom syndrome is BLM mutation; short stature; photosensitive facial telangiectasia; immunodeficiency; cancer predisposition; children; genetics; avoid sun; cancer surveillance.

Symptoms

Short stature; photosensitive facial rash; child; cancer predisposition; BLM; immunodeficiency

Causes

BLM mutation; AR; Bloom; chromosome instability.

Treatment

Avoid sun; immunizations; cancer surveillance; genetics; supportive

Dept

Medical genetics / pediatrics / dermatology / oncology.

Warm reminder: Health education reference only; seek care at regular hospital.