Gordon syndrome

Gordon Syndrome

Gordon Syndrome (pronounced: GOR-dun SIN-drome), also known as Distal Arthrogryposis Type 3 or Arthrogryposis Multiplex Congenita, is a rare genetic disorder characterized by abnormal development of the skeletal muscles and the kidneys. The syndrome is named after the British pediatrician, Dr. Alan E.H. Emery, who first described it in 1954.

Etymology

The term Gordon Syndrome is derived from the name of the physician who first identified the condition. The word syndrome comes from the Greek words 'syn', which means 'together', and 'drome', which means 'course'. Thus, a syndrome is a group of symptoms that occur together and represent a particular disease or abnormality.

Symptoms

The primary symptoms of Gordon Syndrome include contractures (permanent tightening of the joints), camptodactyly (bent fingers), talipes equinovarus (clubfoot), and hyperuricemia (excess uric acid in the blood). Some individuals may also develop hypertension (high blood pressure) and kidney disease.

Causes

Gordon Syndrome is caused by mutations in the PIK3R1 gene. This gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in the PIK3R1 gene disrupt this regulation, leading to the abnormalities seen in Gordon Syndrome.

Diagnosis

Diagnosis of Gordon Syndrome is based on a clinical examination, genetic testing, and the presence of characteristic symptoms. A detailed family history may also be helpful in diagnosing this condition.

Treatment

Treatment for Gordon Syndrome is symptomatic and supportive. Physical therapy and orthopedic procedures may be needed to improve mobility and manage contractures. Medications may be used to manage symptoms such as hypertension and hyperuricemia.

See Also

• Arthrogryposis
• Genetic Disorders
• Musculoskeletal Disorders
• Kidney Diseases

External links

• Medical encyclopedia article on Gordon syndrome
• Wikipedia's article - Gordon syndrome

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