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.

Wieacker syndrome
Other namesIntellectual disability-developmental delay-contractures syndrome
This condition is inherited in an X-linked recessive manner.

Presentation

The condition is characterized by contracture of the lower joints, muscle atrophy, impaired facial muscles, mental retardation, and syndromic facies.[1][2] 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).[2]

Treatment

Treatment is supportive in nature. There are no effective disease-modifying therapies.[2]

Epidemiology

Fewer than 30 cases have been identified.[3]

References
  1. "OMIM Entry # 314580 - WIEACKER-WOLFF SYNDROME; WRWF". www.omim.org.
  2. "Wieacker Syndrome - NORD (National Organization for Rare Disorders)".
  3. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Intellectual disability developmental delay contractures syndrome". www.orpha.net.
Classification
External resources
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