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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Dwarfism-retinal degeneration-deafness syndrome in children

儿科综合

Common symptoms

眼球震颤、神经性耳聋、脊柱侧弯、四肢畸形、异常矮小、角膜混浊、消瘦、惊厥

The pathology of disease

Dwarfism-retinal degeneration-deafness syndrome in children (Cockayne) is premature aging; short stature; retinal degeneration; deafness; photosensitivity; children; AR; ERCC; supportive; pediatric genetics.

Symptoms

Short stature; retinal degeneration; deafness; photosensitivity; child; AR; ERCC; supportive

Causes

ERCC8/6 mutation; AR; Cockayne; child.

Treatment

Supportive; sun protection; sensory support; pediatric genetics; no cure

Dept

Pediatrics / medical genetics / pediatric ophthalmology / pediatric ENT.

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