Autosomal recessive cutis laxa type 2, classic type 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 typically have a normal life expectancy, but may experience a variety of complications related to their skin and joint laxity.

The symptoms of Autosomal recessive cutis laxa type 2, classic type include:

-Loose, wrinkled skin
-Thin, fragile skin
-Joint laxity
-Delayed motor development
-Growth retardation
-Facial dysmorphism
-Hernias
-Cardiac defects
-Respiratory problems
-Intellectual disability
-Hearing loss
-Vision problems
-Kidney problems
-Gastrointestinal problems
-Genital malformations

The cause of Autosomal recessive cutis laxa type 2, classic type is a mutation 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 connective tissues and are important for maintaining the strength 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 2, classic type.

1. Symptomatic treatment: This includes physical therapy, occupational therapy, and speech therapy to help manage the physical and developmental delays associated with the condition.

2. Surgery: Surgery may be recommended to correct any skeletal deformities or to improve the appearance of the skin.

3. Medications: Medications may be prescribed to help manage the symptoms of the condition, such as pain, inflammation, and seizures.

4. Gene therapy: Gene therapy is a promising new treatment option for autosomal recessive cutis laxa type 2, classic type. This involves introducing a healthy copy of the gene responsible for the condition into the patient’s cells.

5. Dietary changes: Dietary changes may be recommended to help manage the symptoms of the condition. This may include avoiding certain foods that can trigger inflammation or digestive issues.

1. Genetic mutation: Autosomal recessive cutis laxa type 2, classic type is caused by a mutation in the ATP6V0A2 gene.

2. Family history: Individuals with a family history of autosomal recessive cutis laxa type 2, classic type are at an increased risk of developing the condition.

3. Ethnicity: Autosomal recessive cutis laxa type 2, classic type is more common in individuals of Middle Eastern and North African descent.

4. Age: Autosomal recessive cutis laxa type 2, classic type is more common in infants and young children.

At this time, there is no cure for Autosomal recessive cutis laxa type 2, classic type. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage pain, reduce inflammation, and improve skin elasticity. Physical therapy may also be recommended to help improve joint mobility and reduce the risk of contractures.