Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short stature, skeletal abnormalities, and a variety of other physical features. People with SEDC may have a short neck, a flattened face, a small jaw, and a curved spine. They may also have vision and hearing problems, as well as joint pain and stiffness. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Spondyloepiphyseal dysplasia congenita (SEDc) vary from person to person, but may include:

-Short stature
-Dwarfism
-Delayed bone age
-Flat face
-Short neck
-Small chest
-Narrow shoulders
-Short arms and legs
-Flared ribs
-Kyphoscoliosis
-Joint stiffness
-Hip and knee pain
-Hearing loss
-Vision problems
-Heart defects
-Intellectual disability

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder caused by a mutation 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 abnormal type II collagen, which can cause the bones and cartilage to develop abnormally. This can lead to the skeletal abnormalities seen in SEDC.

1. Physical therapy: Physical therapy can help improve strength, flexibility, and range of motion in affected joints.

2. Surgery: Surgery may be necessary to correct skeletal deformities or to relieve pain.

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

4. Assistive devices: Assistive devices such as braces, canes, and walkers may be used to help with mobility.

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

1. Spondyloepiphyseal dysplasia congenita is an inherited disorder, so the primary risk factor is a family history of the condition.

2. Being of a certain ethnic background can also increase the risk of developing the condition.

3. Exposure to certain environmental factors, such as radiation or certain chemicals, may also increase the risk.

There is no cure for spondyloepiphyseal dysplasia congenita (SEDc). Treatment focuses on managing the symptoms and complications. Medications may be prescribed to help with pain, respiratory problems, and other issues. Physical therapy and orthopedic surgery may also be recommended to help improve mobility and reduce pain.