Herrmann–Opitz arthrogryposis syndrome

Herrmann–Opitz Arthrogryposis Syndrome is a rare genetic disorder characterized by multiple joint contractures found throughout the body at birth. The term "arthrogryposis" refers to the presence of multiple joint contractures affecting two or more areas of the body. A "contracture" describes the permanent fixation of a joint in a bent (flexion) or straightened (extension) position, impairing joint movement. Herrmann–Opitz Arthrogryposis Syndrome is a specific subtype of arthrogryposis, distinguished by its genetic cause and associated symptoms.

Etiology

The exact genetic cause of Herrmann–Opitz Arthrogryposis Syndrome remains largely unknown. However, like many forms of arthrogryposis, it is believed to result from a combination of genetic and environmental factors that affect muscle development or joint formation in utero. The condition is thought to follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to be affected.

Symptoms

Individuals with Herrmann–Opitz Arthrogryposis Syndrome present with multiple joint contractures at birth. These contractures can affect any joint but are most commonly observed in the:

• Arms.
• Legs.
• Hands.
• Feet.

Additional symptoms may include:

• Muscle weakness.
• Developmental delays.
• Difficulties with feeding and breathing.

The severity and distribution of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis is primarily based on:

• Clinical examination and the identification of characteristic symptoms.
• Genetic testing to confirm the diagnosis when the genetic cause is identified.

Prenatal diagnosis may be possible through ultrasound, which can detect contractures or other abnormalities in utero.

Treatment

There is no cure for Herrmann–Opitz Arthrogryposis Syndrome. Treatment focuses on managing symptoms and improving quality of life. Key management strategies include:

• Physical therapy and occupational therapy to increase joint mobility and muscle strength.
• Surgical interventions to correct joint deformities or release contractures in severe cases.
• Use of orthopedic devices, such as braces or splints, to support joint function and improve mobility.

Early and consistent intervention is crucial for achieving optimal outcomes.

Prognosis

The prognosis for individuals with Herrmann–Opitz Arthrogryposis Syndrome depends on:

• The severity and distribution of joint contractures.
• The presence of additional symptoms, such as feeding or breathing difficulties.

With early and ongoing intervention, many individuals experience improved mobility and function. However, significant physical limitations may persist for some throughout their lives.

See Also

• Arthrogryposis
• Musculoskeletal disorders
• Genetic disorders
• Rare diseases

NIH genetic and rare disease info

• NIH info on Herrmann–Opitz arthrogryposis syndrome

Herrmann–Opitz arthrogryposis syndrome is a rare disease.

Herrmann–Opitz arthrogryposis syndrome Resources
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