Chanarin-Dorfman syndrome

info · Genetic

A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.

Signs and symptoms

Hepatic steatosis
Strabismus
Everted lower lip vermilion
Alopecia
Abnormality of blood and blood-forming tissues
Myopathy
Ataxia
Hepatomegaly
Nystagmus
Sensorineural hearing impairment

Also known as: neutral lipid storage disease