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Diseases

Genetic and Rare Diseases Information Center (GARD)

Intellectual disability-developmental delay-contractures syndrome


Other Names for this Disease
  • Contractures of feet, muscle atrophy, and oculomotor apraxia
  • Apraxia, oculomotor, with congenital contractures and muscle atrophy
  • Wieacker Wolff syndrome
  • WWS
  • Wieacker syndrome
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Overview

Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue.[1] Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms.[2] There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive.[1]
Last updated: 1/28/2016

References

  1. Annick Toutain. Wieacker Syndrome. NORD. 2015; http://rarediseases.org/rare-diseases/wieacker-syndrome/.
  2. Intellectual disability-developmental delay-contractures syndrome. orpha.net. January 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3454.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Intellectual disability-developmental delay-contractures syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Contractures of feet, muscle atrophy, and oculomotor apraxia
  • Apraxia, oculomotor, with congenital contractures and muscle atrophy
  • Wieacker Wolff syndrome
  • WWS
  • Wieacker syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.