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Home > West Medicine > Internal Medicine > Endocrinology

Classroom classification

百科

de Lange syndrome

内分泌科

Common symptoms

口唇苍白、腭异常、指甲很短、癫痫和癫痫样发作、面部多毛、斜视、发绀、短头畸形、肢体短缩畸形

The pathology of disease

Cornelia de Lange syndrome is developmental delay; synophrys; small stature; limb anomalies; classic facial; SMARCB3; supportive; early intervention.

Symptoms

Developmental delay; synophrys; small stature; limb anomalies; classic facial; feeding; AR/AD

Causes

NIPBL/SMC1A/SMC3 mutation; cohesinopathy; Cornelia de Lange.

Treatment

Early intervention; feeding; orthopedics; supportive; genetics; no cure

Dept

Pediatrics / genetics / developmental pediatrics.

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

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内分泌科Overview of the Western Medical Room