SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome (SEDS) is a rare genetic disorder caused by mutations in the SLC39A13 gene. It is characterized by skeletal abnormalities, including short stature, joint hypermobility, and scoliosis, as well as skin features such as thin, fragile skin and easy bruising. Other features may include muscle weakness, hearing loss, and vision problems. SEDS is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for a person to be affected.

The symptoms of SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome (EDS-SD) vary from person to person, but may include:

- Joint hypermobility
- Joint pain
- Muscle weakness
- Abnormal curvature of the spine (scoliosis)
- Abnormalities of the skull and facial bones
- Abnormalities of the ribs
- Abnormalities of the pelvis
- Abnormalities of the hands and feet
- Abnormalities of the skin, including thin, fragile skin and easy bruising
- Abnormalities of the eyes, including nearsightedness
- Abnormalities of the teeth, including delayed eruption and malocclusion
- Abnormalities of the nails, including thin, brittle nails
- Abnormalities of the heart

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome is caused by mutations in the SLC39A13 gene. This gene provides instructions for making a protein that is involved in transporting zinc into cells. Mutations in this gene lead to a decrease in the amount of zinc that is transported into cells, which can cause the signs and symptoms of this disorder.

Treatment for SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome is primarily focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and orthopedic surgery to help improve mobility and reduce pain. Other treatments may include medications to reduce inflammation, pain, and muscle spasms, as well as nutritional supplements to help improve overall health. Genetic counseling may also be recommended to help families understand the condition and its implications.

1. Genetic mutation in the SLC39A13 gene.
2. Family history of SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome.
3. Age: the condition is more common in children and young adults.
4. Gender: the condition is more common in males.
5. Ethnicity: the condition is more common in individuals of Ashkenazi Jewish descent.

At this time, there is no known cure or medications for SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome. Treatment focuses on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, and medications to help manage pain and other symptoms.