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References OMIM Gene GeneReviews HGMD HGNC
last update : 31-03-2015
Symbol ADCL2
Location 14q32.12
Name cutis laxa, autosomal dominant 2
Other name(s) cutis laxa, autosomal recessive, type IA
Corresponding gene FBLN5
Other symbol(s) ARCL1A
Main clinical features
  • connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers
  • extensive folding and redundant skin on the abdomen and arms were present shortly after birth
  • slightly hyperextensible skin, which demonstrated wrinkling on the back of the hands and the wrists, and slightly accentuated excessive skin folds on the abdomen, with scoliosis
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease