Regressive spondylometaphyseal dysplasia (RSMD) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, abnormal bone growth, and progressive joint stiffness. People with RSMD may also have a curved spine, a short neck, and a flattened face. Other symptoms may include hearing loss, vision problems, and intellectual disability. Treatment typically involves physical therapy, medications, and surgery.

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

-Short stature
-Delayed bone age
-Flat face
-Short neck
-Short ribs
-Flared ribs
-Enlarged joints
-Kyphoscoliosis
-Hip dysplasia
-Flattened vertebrae
-Enlarged metaphyses
-Enlarged epiphyses
-Enlarged wrists
-Enlarged hands
-Enlarged feet
-Enlarged toes
-Enlarged thumbs
-Enlarged fingers
-Enlarged elbows
-Enlarged knees
-Enlarged ankles
-Enlarged heel bones
-Enlarged clavicles
-Enlarged

Regressive 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.

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 stabilize joints.

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. Genetic counseling: Genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation in the COL2A1 gene
2. Family history of the disorder
3. Being of Caucasian descent
4. Being male
5. Low birth weight
6. Premature birth
7. Exposure to certain environmental toxins

There is no cure for regressive spondylometaphyseal dysplasia. 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.