Achard syndrome
Achard Syndrome
Achard Syndrome (pronounced: ah-shar syn-drome) is a rare genetic disorder characterized by abnormalities in the skeletal system, particularly in the hands and feet.
Etymology
The syndrome is named after French physician Emile Achard, who first described the condition in the early 20th century.
Definition
Achard Syndrome is a type of Arthrogryposis, a term used to describe a variety of conditions that cause joint contractures, or stiffness. People with Achard Syndrome often have abnormally short and stubby fingers and toes, a condition known as Brachydactyly. They may also have a limited range of motion in their joints.
Symptoms
The most common symptoms of Achard Syndrome include:
- Brachydactyly: Shortness of the fingers and toes.
- Arthrogryposis: Joint contractures, which can limit the range of motion in the joints.
- Scoliosis: A sideways curvature of the spine.
- Facial dysmorphism: Unusual facial features, such as a prominent forehead and a small jaw.
Diagnosis
Diagnosis of Achard Syndrome is typically based on a physical examination and the presence of characteristic symptoms. Genetic testing may also be used to confirm the diagnosis.
Treatment
Treatment for Achard Syndrome is usually focused on managing symptoms and improving quality of life. This may include physical therapy, surgery to correct skeletal abnormalities, and other supportive treatments.
Related Terms
- Arthrogryposis: A group of disorders characterized by joint contractures.
- Brachydactyly: A condition characterized by abnormally short fingers and toes.
- Scoliosis: A condition characterized by a sideways curvature of the spine.
- Facial dysmorphism: A condition characterized by unusual facial features.
External links
- Medical encyclopedia article on Achard syndrome
- Wikipedia's article - Achard syndrome
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