Wieacker syndrome

Wieacker Syndrome is a rare genetic disorder that primarily affects males. It is characterized by a range of physical and developmental challenges, including muscle weakness, skeletal abnormalities, and delays in motor and cognitive development. The syndrome is named after Friedrich Wieacker, who first described the condition.

Causes and Genetics

Wieacker Syndrome is caused by mutations in the ZNF238 gene, which plays a crucial role in the development and function of muscle and nerve cells. The disorder is inherited in an X-linked recessive pattern, meaning that the mutated gene is located on the X chromosome. Females, having two X chromosomes, are typically carriers of the condition and may exhibit mild symptoms, while males, having only one X chromosome, are more severely affected.

Symptoms

The symptoms of Wieacker Syndrome can vary widely among individuals but generally include:

• Muscle weakness and hypotonia (reduced muscle tone)
• Skeletal abnormalities such as clubfoot or hip dislocation
• Developmental delays, particularly in motor skills such as sitting and walking
• Intellectual disability or learning difficulties
• Facial dysmorphism, including a high forehead, hypertelorism (widely spaced eyes), and a small jaw
• Contractures of the joints, limiting movement

Diagnosis

Diagnosis of Wieacker Syndrome involves a thorough clinical evaluation, including a detailed patient history and physical examination. Genetic testing can confirm the presence of mutations in the ZNF238 gene, providing a definitive diagnosis.

Treatment

There is no cure for Wieacker Syndrome, and treatment focuses on managing symptoms and improving quality of life. A multidisciplinary approach may include:

• Physical therapy to strengthen muscles and improve mobility
• Occupational therapy to assist with daily activities and promote independence
• Speech therapy to address communication challenges
• Orthopedic interventions for skeletal abnormalities
• Educational support for learning disabilities

Prognosis

The prognosis for individuals with Wieacker Syndrome varies depending on the severity of symptoms. With early intervention and supportive care, many can lead active and fulfilling lives. However, the condition can pose significant challenges, and ongoing medical and therapeutic support is often necessary.

See Also

• Genetic disorder
• X-linked recessive inheritance
• Muscular dystrophy
• Developmental disability

NIH genetic and rare disease info

• NIH info on Wieacker syndrome

Wieacker syndrome is a rare disease.