Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Other associated signs and symptoms vary widely. Case reports suggest that this condition is often inherited in an autosomal recessive fashion. It can be caused by mutations in the ATP6VOA2 gene. Wrinkly skin syndrome appears to be represent the mild version of autosomal recessive cutis laxa syndrome type 2.

Common signs and symptoms of wrinkly skin syndrome include wrinkled and inelastic skin on the face, backs of hands, tops of feet, and abdomen, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Additional signs and symptoms that have been described in individual cases, include:

• Small head size (microcephaly)
• Unusual facial characteristics
• Downslanting eyes
• Delayed motor development
• Intellectual disability
• Hip dislocation
• Joint laxity, subluxation (a tendon slips out of its normal position)
• Hernias
• Growth delay