Spondylometaphyseal dysplasia, Schmidt type (SMD-S) is a rare genetic disorder that affects the bones and cartilage. It is characterized by short stature, a short neck, and a flattened face. Other features include a short trunk, short ribs, and a narrow chest. The bones of the spine may be abnormally shaped, and the bones of the arms and legs may be abnormally short. People with SMD-S may also have hearing loss, vision problems, and joint problems.

The symptoms of Spondylometaphyseal dysplasia, Schmidt type, vary from person to person, but may include:

-Short stature
-Flat face
-Short neck
-Broad chest
-Short ribs
-Flared metaphyses
-Enlarged epiphyses
-Delayed bone age
-Kyphoscoliosis
-Joint laxity
-Hip dysplasia
-Flat feet
-Crowded teeth
-Hearing loss
-Intellectual disability

Spondylometaphyseal dysplasia, Schmidt type (SMD-S) 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 a major component of 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. SMD-S is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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 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. Orthotics: Orthotics, such as shoe inserts, may be used to help with balance and stability.

6. Diet and nutrition: Eating a healthy, balanced diet can help maintain a healthy weight and reduce the risk of complications.

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

1. Genetic mutation in the COL2A1 gene
2. Family history of Spondylometaphyseal dysplasia, Schmidt type
3. Advanced maternal age
4. Exposure to certain environmental toxins or radiation

There is no cure for Spondylometaphyseal dysplasia, Schmidt 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.