Autosomal recessive cutis laxa type 1 (ARCL1) is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production of a protein involved in the production of energy in cells. People with ARCL1 typically have a distinctive facial appearance, including a long face, prominent eyes, and a thin upper lip. Other symptoms may include skeletal abnormalities, heart defects, and intellectual disability. Treatment is supportive and may include physical therapy, occupational therapy, and surgery.