Spondyloepiphyseal dysplasia, MacDermot type (SEDM) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, skeletal abnormalities, and joint problems. People with SEDM may have a short neck, short ribs, and a curved spine. They may also have joint pain, stiffness, and limited range of motion. Other features may include hearing loss, vision problems, and heart defects. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Spondyloepiphyseal dysplasia, MacDermot type, include:

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

Spondyloepiphyseal dysplasia, MacDermot type is caused by a mutation in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is a major component of cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. The mutation in the COL2A1 gene results in the production of an abnormal form of type II collagen, which disrupts the normal development of bones and other connective tissues.

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 joint deformities or to stabilize the spine.

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 individuals and families understand the condition and its implications.

1. Spondyloepiphyseal dysplasia, MacDermot type is an inherited disorder caused by a mutation in the COL2A1 gene.

2. It is inherited in an autosomal dominant pattern, which means that a single copy of the altered gene is sufficient to cause the disorder.

3. It is more common in individuals of European descent.

4. It is more common in males than females.

5. It is caused by a new mutation and is not inherited from a parent.

There is no cure for Spondyloepiphyseal dysplasia, MacDermot type. Treatment focuses on managing the symptoms and complications. Medications may be prescribed to help with pain, muscle spasms, and other symptoms. Physical therapy and occupational therapy may also be recommended to help maintain mobility and strength. Surgery may be necessary to correct skeletal deformities.