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Definition

A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.

Acronym

ARCL2C

Synonyms

Cutis laxa autosomal recessive, type IIC