Axial spondylometaphyseal dysplasia (SMD) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, a short neck, and a flattened face. Other features include a short trunk, a narrow chest, and a curved spine. People with SMD may also have joint stiffness, scoliosis, and skeletal abnormalities.

The symptoms of Axial spondylometaphyseal dysplasia can vary from person to person, but may include:

-Short stature
-Flat face
-Short neck
-Broad chest
-Short ribs
-Short arms and legs
-Flared ribs
-Enlarged joints
-Kyphoscoliosis
-Hip dysplasia
-Flattened vertebrae
-Delayed bone age
-Delayed motor development
-Intellectual disability
-Hearing loss
-Vision problems
-Heart defects
-Gastrointestinal problems

Axial spondylometaphyseal dysplasia is a rare genetic disorder caused by mutations in the COL10A1 gene. This gene provides instructions for making a protein called type X collagen, which is important for the normal development of bones and cartilage. Mutations in the COL10A1 gene lead to the production of an abnormal form of type X collagen, which disrupts the normal development of bones and cartilage, resulting in the signs and symptoms of axial spondylometaphyseal dysplasia.

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

2. Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) can help reduce pain and inflammation.

3. Surgery: Surgery may be necessary to correct deformities or to stabilize the spine.

4. Assistive devices: Braces, splints, and other assistive devices can help support the affected joints and reduce pain.

5. Orthotics: Orthotics, such as shoe inserts, can help improve posture and reduce pain.

6. Exercise: Regular exercise can help improve strength, flexibility, and range of motion.

1. Genetic mutation in the COL2A1 gene
2. Family history of the disorder
3. Advanced maternal age
4. Exposure to certain environmental toxins
5. Low birth weight

There is no cure for axial spondylometaphyseal dysplasia, but medications can be used to manage symptoms. These medications may include nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce pain and inflammation, muscle relaxants to reduce muscle spasms, and physical therapy to improve mobility. Surgery may also be recommended in some cases to correct skeletal deformities.