Autosomal recessive Stickler syndrome is a genetic disorder that affects the eyes, ears, and joints. It is caused by mutations in the COL2A1 gene, which is responsible for producing collagen, a protein that helps give structure to the body's tissues and organs. Symptoms of Stickler syndrome include hearing loss, vision problems, cleft palate, and joint problems. People with this condition may also have a distinctive facial appearance, including a small chin and a flat midface.

The most common symptoms of Autosomal recessive Stickler syndrome include:

-Hearing loss
-Cleft palate
-Eye problems such as nearsightedness, cataracts, and glaucoma
-Joint problems such as early-onset arthritis
-Facial features such as a small lower jaw, a flat midface, and a short nose
-Craniosynostosis (premature fusion of the skull bones)
-Heart defects
-Delayed development
-Intellectual disability
-Speech and language delays

Autosomal recessive Stickler syndrome is caused by mutations in one of several genes, including COL2A1, COL11A1, COL11A2, and COL9A1. These genes provide instructions for making proteins that are important for the structure and function of the eyes, ears, and joints. Mutations in these genes can lead to the development of Stickler syndrome.

1. Surgery: Surgery may be recommended to correct any eye, ear, or joint problems associated with Stickler syndrome.

2. Vision correction: Vision correction may be necessary to improve vision in people with Stickler syndrome. This may include glasses, contact lenses, or surgery.

3. Hearing aids: Hearing aids may be recommended to improve hearing in people with Stickler syndrome.

4. Physical therapy: Physical therapy may be recommended to help improve joint flexibility and strength.

5. Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation.

6. Genetic counseling: Genetic counseling may be recommended to help people with Stickler syndrome and their families understand the condition and its implications.

1. Family history of Stickler syndrome
2. Consanguinity (marriage between close relatives)
3. Mutations in the COL2A1 gene
4. Mutations in the COL11A1 gene
5. Mutations in the COL11A2 gene
6. Mutations in the COL9A1 gene
7. Mutations in the COL9A2 gene
8. Mutations in the COL9A3 gene
9. Mutations in the COL11A3 gene
10. Mutations in the COL11A4 gene

Yes, there is no cure for Autosomal recessive Stickler syndrome, but there are medications and treatments available to help manage the symptoms. These include medications to reduce pain, improve vision, and slow the progression of joint damage. Surgery may also be recommended to correct joint deformities or to repair damaged eye structures.