Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Definition
A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
Also known as ARCL1C, autosomal recessive cutis laxa type 1C, Urban-Rifkin-Davis syndrome — per MONDO