Wieacker–Wolff syndrome with associated cleft palate in a female case

Natalie D. Godfrey, Samandar Dowlatshahi, Madelena Martin, Douglas M. Rothkopf

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Wieacker–Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al. (); American Journal of Medical Genetics Part A 173A: 1358–1363]. This case supports the unpredictability of Wieacker–Wolff syndrome severity and prompts future questions regarding female mutations and phenotypic expression.

Original languageEnglish (US)
Pages (from-to)167-170
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
StatePublished - Jan 1 2018


  • cleft palate
  • Wieacker–Wolff syndrome
  • ZC4H2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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