What is Gordon Syndrome?
Gordon syndrome, also known as distal arthrogryposis type 3, is a rare congenital genetic disorder that affects the movement of certain joints in the arms and legs. It is characterized by stiffness and impaired mobility of the joint.
Causes of Gordon Syndrome
Gordon syndrome is caused by a genetic mutation in the PIEZO2 gene. This gene influences the formation of proteins that play an important role in controlling the sensations of touch, pain, vibration, and muscle coordination. As a result, the mutation of this gene can affect mobility.
Symptoms of Gordon Syndrome
The symptoms of Gordon syndrome vary among individuals and are mostly seen in infants. They include:
- Short stature
- Abnormal curvature of the spine
- Drooping eyelids
- Dislocation of the hip
- Curved fingers
- Stiffness of the elbow, knees, and ankles.
- Webbed fingers and toes.
- Short neck
- Opening in the roof of the mouth.
Females and males are equally affected, although females tend to have less severe symptoms.
Diagnosis of Gordon Syndrome
Diagnosis is done at the time of birth based on physical examination and diagnostic tests such as:
- X-rays: These may be ordered to identify any abnormalities in the bones.
- Genetic testing: This is done to identify any mutations in the PIEZO2 gene.
Treatment for Gordon Syndrome
Treatment is directed towards the resolution of symptoms and includes:
- Physical Therapy: This helps improve mobility of the arms and legs.
- Use of Orthotic Devices: Braces or splints are used to increase joint range of motion and function.
- Surgery: Surgery can be done to correct physical abnormalities in the bones such as clubfoot that will help to maintain the normal bone structure.
Prognosis of Gordon Syndrome
People diagnosed with Gordon syndrome tend to have reduced mobility; however, with adequate treatment, the condition can be managed to prevent any negative long-term impacts on health.