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.

The symptoms of Autosomal recessive cutis laxa type 1 (ARCL1) vary from person to person, but may include:

-Loose, sagging skin
-Wrinkled skin
-Thin, fragile skin
-Delayed closure of the fontanelles (soft spots) in infants
-Joint laxity
-Joint dislocations
-Hernias
-Abnormal facial features
-Short stature
-Intellectual disability
-Heart defects
-Kidney abnormalities
-Lung abnormalities
-Gastrointestinal problems
-Hearing loss
-Vision problems
-Seizures

Autosomal recessive cutis laxa type 1 is caused by mutations in the ATP6V0A2 gene. This gene provides instructions for making a protein that is part of a complex called the V-ATPase. This complex is found in many types of cells and helps regulate the acidity (pH) of the cell. Mutations in the ATP6V0A2 gene reduce the activity of the V-ATPase complex, which disrupts the normal acidity of cells and leads to the signs and symptoms of autosomal recessive cutis laxa type 1.

1. Physical therapy: Physical therapy can help improve joint mobility, muscle strength, and coordination.

2. Surgery: Surgery may be necessary to correct joint deformities or to release tight skin.

3. Skin care: Moisturizing the skin and avoiding excessive sun exposure can help reduce the risk of skin damage.

4. Medications: Certain medications, such as retinoids, can help improve the appearance of the skin.

5. Genetic counseling: Genetic counseling can help families understand the risks associated with autosomal recessive cutis laxa type 1 and how to manage it.

1. Mutations in the ATP6V0A2 gene.
2. Family history of autosomal recessive cutis laxa type 1.
3. Having a parent who is a carrier of the mutated gene.
4. Exposure to certain environmental factors, such as certain medications or toxins.
5. Being of certain ethnic backgrounds, such as Ashkenazi Jewish, Italian, or North African.

At this time, there is no cure for Autosomal recessive cutis laxa type 1. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage pain, reduce inflammation, and improve joint mobility. Physical and occupational therapy may also be recommended to help improve mobility and strength.