Autosomal recessive cutis laxa type 2A 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 this condition may also have skeletal abnormalities, heart defects, and intellectual disability. Treatment is supportive and may include physical therapy, occupational therapy, and medications to manage symptoms.

The symptoms of Autosomal recessive cutis laxa type 2A vary from person to person, but may include:

-Loose, wrinkled skin
-Thin, fragile skin
-Delayed closure of the fontanelles (soft spots) in infants
-Joint laxity
-Hernias
-Abnormalities of the face, such as a long face, prominent forehead, and/or a pointed chin
-Abnormalities of the eyes, such as droopy eyelids, strabismus, and/or cataracts
-Abnormalities of the heart, such as aortic aneurysms and/or aortic valve regurgitation
-Abnormalities of the lungs, such as recurrent pneumonia
-Abnormalities of the skeleton, such as scol

Autosomal recessive cutis laxa type 2A is caused by mutations in the FBLN5 gene. This gene provides instructions for making a protein called fibulin-5, which is involved in the formation of elastic fibers. Elastic fibers are found in the skin and other tissues and are important for maintaining the structure and flexibility of these tissues. Mutations in the FBLN5 gene reduce the amount of functional fibulin-5 protein, which disrupts the formation of elastic fibers and leads to the signs and symptoms of autosomal recessive cutis laxa type 2A.

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 2A and how to manage it.

1. Genetic mutation in the ATP6V0A2 gene.
2. Family history of Autosomal recessive cutis laxa type 2A.
3. Being of Ashkenazi Jewish descent.
4. Being of Mediterranean descent.
5. Being of North African descent.
6. Being of Middle Eastern descent.
7. Being of South Asian descent.
8. Being of African descent.

At this time, there is no known cure for Autosomal recessive cutis laxa type 2A. However, there are medications that can help manage the symptoms of the condition. These include medications to help reduce inflammation, improve skin elasticity, and reduce the risk of infection. Additionally, physical therapy and lifestyle modifications may help improve the quality of life for those with Autosomal recessive cutis laxa type 2A.