label: cutis laxa, autosomal recessive, type 1B
label_lc: cutis laxa, autosomal recessive, type 1b
description: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.