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Definition

A form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. Affected individuals manifest a gradual loss of subcutaneous adipose tissue in various parts of the body, accompanied by an accumulation of adipose tissue in the face and neck in some cases causing a double chin, fat neck, or cushingoid appearance. FPLD7 is an autosomal dominant form with a variable phenotype. Some patients manifest congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction.

Acronym

FPLD7

Synonyms

LCCNS
Lipodystrophy, partial, with congenital cataracts and neurodegeneration
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

 
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