Wieacker Syndrome

Wieacker Syndrome or Wieacker-Wolff syndrome is a rare, severely disabling, genetic disorder. It is an X-linked recessive disorder and thus affects mostly males.

Presentation

The condition is characterized by contracture of the lower joints, muscle atrophy, impaired facial muscles, mental retardation, and syndromic facies. Heterozygous females may show mild signs of the disease.

Genetics

Wieacker syndrome is caused by a mutation in ZC4H2 on the X chromosome (Xq13-q21).

Diagnosis

Treatment

Treatment is supportive in nature. There are no effective disease-modifying therapies.

Epidemiology

Fewer than 30 cases have been identified.