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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Brachydactyly - spherical lens ectopia syndrome

儿科综合

Common symptoms

颈短

The pathology of disease

Short brachydactyly with spherical lens ectopia (Weill-Marchesani-like syndrome) is AR connective tissue disorder; short stature; brachydactyly; spherophakia; glaucoma risk; ophthalmology/genetics.

Symptoms

Short stature; brachydactyly; spherical lens; glaucoma; myopia; AR; family; genetic

Causes

Weill-Marchesani; AR; connective tissue; fibrillin/ADAMTS10.

Treatment

Monitor glaucoma; ophthalmology; genetics; surgery for lens; supportive

Dept

Ophthalmology / genetics / pediatrics.

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