H number H00557
Name Cutis laxa, including:
Autosomal dominant cutis laxa (ADCL);
Autosomal recessive cutis laxa I (ARCL1);
Autosomal recessive cutis laxa II (ARCL2);
Autosomal recessive cutis laxa III (ARCL3);
X-linked recessive cutis laxa (XRCL);
Wrinkly skin syndrome
Description 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. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive cutis laxa III, also known as De Barsy syndrome, is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, and intrauterine growth retardation.
Category Developmental disorder; Skin and connective tissue disease