Spondyloepiphyseal dysplasia tarda, Kohn type (SEDT-K) is a rare genetic disorder that affects the bones and cartilage. It is characterized by short stature, skeletal abnormalities, and progressive joint stiffness. People with SEDT-K may also have hearing loss, vision problems, and other health issues. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Spondyloepiphyseal dysplasia tarda, Kohn type include:

-Short stature
-Delayed bone age
-Flat face
-Short neck
-Small chest
-Prominent forehead
-Short, broad hands and feet
-Joint stiffness
-Kyphoscoliosis
-Hip and knee pain
-Hearing loss
-Vision problems
-Heart defects
-Intellectual disability

Spondyloepiphyseal dysplasia tarda, Kohn type 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 an abnormal form of type II collagen, which can cause the signs and symptoms of Spondyloepiphyseal dysplasia tarda, Kohn type.

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

2. Surgery: Surgery may be necessary to correct any skeletal deformities or joint problems.

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

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

5. Genetic counseling: Genetic counseling can help individuals and families understand the condition and its implications.

1. Autosomal dominant inheritance
2. Mutations in the TRPV4 gene
3. Family history of the disorder
4. Male gender
5. Advanced age
6. Obesity
7. Smoking
8. Poor nutrition
9. Lack of physical activity
10. Exposure to environmental toxins

There is no cure for Spondyloepiphyseal dysplasia tarda, Kohn type. Treatment focuses on managing the symptoms and complications. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and bisphosphonates may be used to reduce pain and inflammation. Physical therapy and bracing may be used to improve mobility and reduce pain. Surgery may be necessary to correct skeletal deformities.