Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)