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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Retinitis pigmentosa-obesity-polydactyly syndrome (Bardet-Biedl)

儿科综合

Common symptoms

拇指三节、上睑下垂、骨质疏松、夜盲、性腺发育不良、生长缓慢、眼睑下垂、外阴呈幼稚型无阴毛、眼球震颤

The pathology of disease

Retinitis pigmentosa-obesity-polydactyly syndrome (Bardet-Biedl) is retinal degeneration; obesity; polydactyly; hypogonadism; renal; children; AR; BBS genes; supportive; genetics/ophthalmology.

Symptoms

Retinal degeneration; obesity; polydactyly; child; AR; BBS; supportive

Causes

BBS genes; AR; Bardet-Biedl; ciliopathy.

Treatment

Supportive; treat obesity/renal/genitourinary; low vision; genetics/ophthalmology; no cure

Dept

Ophthalmology / medical genetics / pediatrics / endocrinology.

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