Spondyloepimetaphyseal dysplasia, Shohat type is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, short limbs, and skeletal abnormalities such as short ribs, flattened vertebrae, and abnormal growth of the long bones. Other features may include a short neck, a prominent forehead, and a flattened face. Affected individuals may also have hearing loss, vision problems, and intellectual disability. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern.

The symptoms of Spondyloepimetaphyseal dysplasia, Shohat type, vary from person to person, but may include:

- Short stature
- Short neck
- Short ribs
- Flattened vertebrae
- Abnormal curvature of the spine (scoliosis)
- Abnormal development of the hip bones (coxae)
- Abnormal development of the shoulder blades (scapulae)
- Abnormal development of the long bones of the arms and legs
- Abnormal development of the pelvis
- Abnormal development of the skull
- Abnormal development of the facial bones
- Abnormal development of the jaw
- Abnormal development of the teeth
- Abnormal development of the fingers and toes
- Abnormal development of the nails
- Abnormal development

Spondyloepimetaphyseal dysplasia, Shohat type is a rare genetic disorder caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is found in cartilage and other connective tissues. Mutations in the COL2A1 gene lead to the production of an abnormal form of type II collagen, which disrupts the normal development of bones and other connective tissues.

The treatment for Spondyloepimetaphyseal dysplasia, Shohat type, is primarily focused on managing the symptoms and complications associated with the condition. Treatment may include physical therapy, orthopedic surgery, and medications to reduce pain and inflammation. In some cases, braces or other assistive devices may be used to help improve mobility. In severe cases, joint replacement surgery may be necessary. Genetic counseling may also be recommended for individuals with this condition and their families.

1. Genetic mutation in the COL2A1 gene
2. Family history of the disorder
3. Being of Ashkenazi Jewish descent
4. Being female
5. Being of Caucasian descent

There is no cure for Spondyloepimetaphyseal dysplasia, Shohat type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, medications to reduce pain and inflammation, and surgery to correct skeletal deformities.