Spondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, skeletal abnormalities, and joint laxity. Affected individuals may also have hearing loss, vision problems, and intellectual disability. The condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant manner.

The symptoms of Spondyloepimetaphyseal dysplasia, Missouri type, include short stature, short limbs, a short neck, a prominent forehead, a flattened face, a short nose, a small jaw, a high-arched palate, and a small chest. Other symptoms may include joint stiffness, scoliosis, and hearing loss.

Spondyloepimetaphyseal dysplasia, Missouri type is a rare genetic disorder caused by a mutation 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. The mutation in the COL2A1 gene leads to the production of an abnormal form of type II collagen, which causes the signs and symptoms of Spondyloepimetaphyseal dysplasia, Missouri type.

The treatments for Spondyloepimetaphyseal dysplasia, Missouri type, depend on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, occupational therapy, braces, and/or surgery. Physical therapy can help improve strength, flexibility, and range of motion. Occupational therapy can help with activities of daily living, such as dressing, bathing, and eating. Braces may be used to help support the spine and improve posture. Surgery may be necessary to correct any deformities or to stabilize the spine.

1. Genetic mutation: Spondyloepimetaphyseal dysplasia, Missouri type is caused by a mutation in the COL2A1 gene.

2. Family history: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

3. Age: This condition is usually diagnosed in infancy or early childhood.

There is no cure for Spondyloepimetaphyseal dysplasia, Missouri 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.