/cutis laxa, autosomal recessive, type 1B

cutis laxa, autosomal recessive, type 1B

Rare Disease

MONDO:0013754

Also Known As

ARCL1Bautosomal recessive cutis laxa type IBcutis laxa, autosomal recessive, type IB

Definition

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.