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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Ellis-van Creveld syndrome

儿科综合

Common symptoms

长骨粗大、中度精神发育迟滞、钙化、初生婴儿即出现...、长骨骨骺端钙化不全

The pathology of disease

Ellis-van Creveld syndrome is chondroectodermal dysplasia; short limbs; polydactyly; ectodermal dysplasia; congenital heart; children; AR; EVC1/2; supportive; pediatric genetics.

Symptoms

Short limbs; polydactyly; nail dysplasia; child; congenital heart; AR; EVC

Causes

EVC1/EVC2 mutation; AR; Ellis-van Creveld; child.

Treatment

Supportive; treat congenital heart; dental; pediatric genetics; orthopedics

Dept

Pediatrics / medical genetics / pediatric cardiology / pediatric dentistry.

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