autosomal recessive cutis laxa type 2

autosomal recessive cutis laxa type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

The condition is characterized by wrinkled, redundant, and sagging inelastic skin, along with potential growth and developmental delays, and skeletal anomalies. It is associated with the synonyms ARCL2 and cutis laxa with joint laxity and developmental delay. There are currently no orphan drug designations under investigation.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries such as NORD or Orphanet may provide additional resources and support. Finding specialists experienced with connective tissue disorders could also be beneficial.