X-linked Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects the connective tissues in the body. It is caused by a mutation in the COL3A1 gene, which is located on the X chromosome. Symptoms of X-linked EDS include joint hypermobility, skin fragility, and easy bruising. Other symptoms may include scoliosis, cardiac problems, and gastrointestinal issues. There is no cure for X-linked EDS, but physical therapy and lifestyle modifications can help manage symptoms.

The symptoms of X-linked Ehlers-Danlos syndrome (EDS-XL) vary from person to person, but may include:

- Joint hypermobility
- Joint pain
- Muscle weakness
- Easy bruising
- Skin hyperextensibility
- Fragile skin
- Poor wound healing
- Abnormal scarring
- Abnormal facial features
- Abnormalities of the eyes, teeth, and nails
- Cardiac and gastrointestinal problems
- Scoliosis
- Kyphoscoliosis
- Spinal cord compression
- Abnormalities of the urinary tract
- Abnormalities of the reproductive system

X-linked Ehlers-Danlos syndrome (EDS-XL) is caused by mutations in the TNXB gene, which is located on the X chromosome. The TNXB gene provides instructions for making a protein called tenascin-X, which is involved in the formation of connective tissue. Mutations in the TNXB gene lead to a decrease in the amount of tenascin-X protein, which disrupts the structure and strength of connective tissue throughout the body. This can cause the signs and symptoms of EDS-XL.

Treatment for X-linked Ehlers-Danlos syndrome (EDS-XL) is focused on managing the symptoms and complications associated with the condition. Treatment may include:

• Physical therapy: Physical therapy can help improve strength, flexibility, and range of motion.

• Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, bathing, and eating.

• Orthopedic care: Orthopedic care can help with joint pain and instability.

• Medications: Pain medications, muscle relaxants, and anti-inflammatory medications may be prescribed to help manage pain and inflammation.

• Surgery: Surgery may be necessary to repair joint instability or to correct deformities.

• Genetic counseling: Genetic counseling can help individuals and families understand the condition and the risks associated with it.

1. Being male
2. Having a family history of X-linked Ehlers-Danlos syndrome
3. Having a mutation in the COL3A1 gene
4. Having a mutation in the TNXB gene
5. Having a mutation in the FKBP14 gene
6. Having a mutation in the PLOD1 gene
7. Having a mutation in the ZNF469 gene
8. Having a mutation in the ADAMTS2 gene
9. Having a mutation in the CHST14 gene
10. Having a mutation in the FBLN5 gene

At this time, there is no cure for X-linked Ehlers-Danlos syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, pain medications, and medications to help with joint stability. Surgery may also be recommended in some cases.