Gossypium barbadense

Gordon Syndrome, also known as Distal Arthrogryposis Type 3 (DA3), is a rare genetic disorder characterized by abnormal development of the skeletal muscles and the bones. It is named after the physician Dr. Samuel Gordon, who first described the condition in 1954.

Symptoms and Signs

The primary symptoms of Gordon Syndrome include contractures (permanent shortening of a muscle or joint), cleft palate, and clubfoot. Other symptoms may include facial dysmorphism (abnormal facial features), ptosis (drooping of the upper eyelid), and strabismus (misalignment of the eyes).

Causes

Gordon Syndrome is caused by mutations in the PIEZO2 gene. This gene provides instructions for making a protein that plays a crucial role in the body's ability to sense mechanical stimuli, including touch and proprioception (the awareness of the position and movement of the body).

Diagnosis

Diagnosis of Gordon Syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the PIEZO2 gene.

Treatment

There is currently no cure for Gordon Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgery to correct deformities, and special education services for those with intellectual disabilities.

Prognosis

The prognosis for individuals with Gordon Syndrome varies. Some individuals may have a normal lifespan with relatively mild symptoms, while others may experience severe complications.

See Also

• Arthrogryposis
• Genetic Disorders
• Musculoskeletal Disorders

References

• National Institutes of Health
• Genetics Home Reference

NIH genetic and rare disease info

• NIH info on Gossypium barbadense

Gossypium barbadense is a rare disease.