Spondyloepiphyseal dysplasia with metatarsal shortening (SEMD) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, shortening of the long bones of the arms and legs, and shortening of the metatarsal bones in the feet. Other features may include a curved spine, a flattened face, and a small jaw. People with SEMD may also have hearing loss, vision problems, and joint pain. Treatment typically involves physical therapy, orthopedic surgery, and medications to manage symptoms.

The symptoms of Spondyloepiphyseal dysplasia with metatarsal shortening include:

-Short stature
-Short, broad hands and feet
-Short, broad ribs
-Short, broad vertebrae
-Short, broad metatarsals
-Flat face
-Prominent forehead
-Short neck
-Prominent eyes
-High-arched palate
-Hearing loss
-Joint stiffness
-Kyphoscoliosis
-Delayed bone age
-Delayed puberty
-Crowded teeth
-Abnormal gait

Spondyloepiphyseal dysplasia with metatarsal shortening 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 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 bones and cartilage to develop abnormally. This can lead to the characteristic features of spondyloepiphyseal dysplasia with metatarsal shortening, including short stature, skeletal abnormalities, and shortening of the metatarsal bones in the feet.

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

2. Orthopedic surgery: Surgery may be necessary to correct any deformities or to lengthen the metatarsals.

3. Bracing: Bracing can help support the affected joints and reduce pain.

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

5. Assistive devices: Assistive devices such as canes, walkers, or wheelchairs can help with mobility.

6. Occupational therapy: Occupational therapy can help with activities of daily living and help improve quality of life.

1. Genetic mutation in the COL2A1 gene
2. Family history of the disorder
3. Female gender
4. Advanced age
5. Low birth weight
6. Short stature
7. Abnormal curvature of the spine
8. Abnormal shape of the vertebrae
9. Abnormal shape of the pelvis
10. Abnormal shape of the femur
11. Abnormal shape of the tibia
12. Abnormal shape of the fibula
13. Abnormal shape of the metatarsals
14. Abnormal shape of the phalanges
15. Abnormal shape of the toes
16. Abnormal shape of the feet
17. Abnormal shape of the hands
18. Abnormal shape of the fingers
19. Abnormal shape of the nails
20. Abnormal shape

There is no cure for spondyloepiphyseal dysplasia with metatarsal shortening. Treatment focuses on managing the symptoms and complications. This may include physical therapy, orthopedic surgery, and medications to reduce pain and inflammation.