Cutis laxa is a rare connective tissue disorder characterized by a loosely hanging, wrinkled skin that lacks elasticity. This condition of the skin is marked in the face, giving a prematurely aged appearance. Additional features of the condition include thickening and darkening of the affected areas of the skin, hypermobility of the joints, skeletal abnormalities (hip dislocation, spinal curvature, and others), emphysema, hernias, diverticula in the bladder and esophagus, and in severe cases, impairment of internal organs. Autosomal recessive Cutis Laxa Type 2 (ARCL2) is the most severe form of this condition, and is characterized by an onset at birth. In ACRL2, the condition is extremely severe over the hands, feet, and abdomen. Other features seen include growth retardation, flat feet, delayed closure of the anterior fontanel, a typical facial appearance with down-slanting palpebral fissures, and bilateral congenital dislocation of hips are also common.
Autosomal recessive cutis laxa type IIA is associated with homozygous or compound heterozygous loss-of-function mutations in the ATP6V0A2 gene, which encodes the alpha-2 subunit of the V-type H+ ATPase.