Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome (OMU-SD) is a rare genetic disorder characterized by disproportionate overgrowth of the long bones of the arms and legs, undermodeling of the metaphyses of the long bones, and spondylar dysplasia. It is caused by a mutation in the gene encoding the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms of OMU-SD include short stature, joint laxity, scoliosis, and skeletal abnormalities. Treatment typically involves physical therapy, orthopedic surgery, and medications to manage pain and other symptoms.

The symptoms of Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome can vary from person to person, but may include:

• Delayed growth and development
• Short stature
• Joint laxity
• Abnormal curvature of the spine (scoliosis)
• Abnormal gait
• Abnormal facial features
• Abnormal skull shape
• Abnormal chest shape
• Abnormal rib cage shape
• Abnormal shoulder blade shape
• Abnormal hip shape
• Abnormal elbow shape
• Abnormal wrist shape
• Abnormal knee shape
• Abnormal foot shape
• Abnormal hand shape
• Abnormal finger shape
• Abnormal toe shape
• Abnormal fingernail shape
• Abnormal toenail shape
• Abnormal teeth shape

The exact cause of Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome is unknown. It is believed to be caused by a genetic mutation, but the specific gene or genes involved have not yet been identified.

The treatments for Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome vary depending on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, occupational therapy, orthopedic surgery, and medications to reduce pain and inflammation. In some cases, braces or other assistive devices may be used to help with mobility. In severe cases, surgery may be necessary to correct skeletal deformities. Genetic counseling may also be recommended for individuals with this condition.

1. Genetic mutation: The most common cause of Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome is a mutation in the gene called GDF5.

2. Family history: Having a family history of the condition increases the risk of developing Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome.

3. Gender: The condition is more common in males than females.

4. Age: The condition is more common in children and young adults.

Unfortunately, there is no cure for Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome. 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.