Spondylometaphyseal dysplasia, 'corner fracture' type is a rare genetic disorder that affects the bones and cartilage. It is characterized by short stature, a short neck, and a flattened face. It is also associated with a distinctive skeletal abnormality known as a “corner fracture”, which is a fracture of the corner of the vertebrae. This type of fracture can cause pain and difficulty with movement. Other symptoms may include joint stiffness, scoliosis, and hearing loss. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Spondylometaphyseal dysplasia, 'corner fracture' type can vary from person to person, but may include:

- Short stature
- Abnormal curvature of the spine (scoliosis)
- Abnormal shape of the vertebrae
- Abnormal shape of the pelvis
- Abnormal shape of the ribs
- Abnormal shape of the shoulder blades
- Abnormal shape of the long bones
- Abnormal shape of the skull
- Abnormal shape of the facial bones
- Abnormal shape of the jaw
- Abnormal shape of the hands and feet
- Abnormal shape of the fingers and toes
- Abnormal shape of the nails
- Abnormal shape of the teeth
- Abnormal shape of the ears
- Abnormal shape of the eyes

Spondylometaphyseal dysplasia, 'corner fracture' type is 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 bone. 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 cartilage.

Treatment for spondylometaphyseal dysplasia, 'corner fracture' type, depends on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, bracing, and/or surgery. Physical therapy can help improve strength, flexibility, and range of motion. Bracing may be used to help support weakened bones and reduce pain. Surgery may be necessary to correct deformities or to stabilize the spine. In some cases, medications may be prescribed to help manage pain.

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
8. Exposure to certain medications during pregnancy

There is no cure for spondylometaphyseal dysplasia, 'corner fracture' 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 any skeletal deformities.