Cutis laxa, including:
Autosomal dominant cutis laxa (ADCL);
Autosomal recessive cutis laxa I (ARCL1);
Autosomal recessive cutis laxa II (ARCL2);
X-linked recessive cutis laxa (XRCL);
Wrinkly skin syndrome

Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis.

Developmental disorder; Skin and connective tissue disease

(ADCL) ELN [HSA:2006] [KO:K14211]
(ARCL1) FBLN4 [HSA:30008]
(ARCL1) FBLN5 [HSA:10516]
(ARCL2, wrinkly) ATP6V0A2 [HSA:23545] [KO:K02154]
(XRCL) ATP7A [HSA:538] [KO:K01533]

PMID:19401719 (gene)

Morava E, Guillard M, Lefeber DJ, Wevers RA

Autosomal recessive cutis laxa syndrome revisited.

Eur J Hum Genet 17:1099-110 (2009)

PMID:16780467 (description)

Gupta N, Phadke SR

Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.

Pediatr Dermatol 23:225-30 (2006)

PMID:21309044 (gene, description)

Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Hum Mutat 32:445-55 (2011)