Autosomal recessive cutis laxa type IIA is a disorder characterized by a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Patients may exhibit features such as wide fontanels, frontal bossing, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries. There are two major groups within this disorder: ARCL2A, associated with a combined N- and O-linked glycosylation defect, and ARCL2B, without a metabolic disorder. ARCL2A is considered a multisystem disorder with brain dysgenesis leading to developmental delay and an epileptic neurodegenerative syndrome. Symptoms include excessive skin wrinkling, delayed fontanelle closure, a distinct facial appearance, connective tissue weakness, growth and developmental delay, and neurological abnormalities. Some individuals may develop seizures and mental deterioration later in life. De Barsy syndrome, a rare autosomal recessive disorder, shares similarities with cutis laxa, including loose skin, eye, musculoskeletal, and neurological abnormalities. Autosomal recessive cutis laxa type IIA is caused by mutations in the ATP6V0A2 gene on chromosome 12q24.