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Diseases

Genetic and Rare Diseases Information Center (GARD)

Wiedemann-Steiner syndrome


Other Names for this Disease
  • Familial cortical myoclonus
  • Hairy elbows, short stature, facial dysmorphism, and developmental delay
  • Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
  • WDSTS
  • Wiedemann Grosse Dibbern syndrome
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Overview

Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. [1][2][3] This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception.[4] Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.[5]
Last updated: 4/17/2015

References

  1. Miyake N, Tsurusaki Y, Koshimizu E, et al. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet. March 25, 2015; http://www.ncbi.nlm.nih.gov/pubmed/?term=25810209. Accessed 3/30/2015.
  2. Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM.. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am J Med Genet Part A. August 2014; 164A(8):2079-83. http://www.ncbi.nlm.nih.gov/pubmed/?term=24818805.
  3. Koenig R, Meinecke P, Kuechler A, et al. Wiedemann-Steiner syndrome: three further cases. Am J Med Genet Part A. Sep 2010; 152A(9):2372-5. http://www.ncbi.nlm.nih.gov/pubmed/?term=20803650.
  4. Jones WD, Dafou D, McEntagart M, et al. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am J Hum Genet. Aug 10, 2012; 91(2):358-64. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415539/. Accessed 3/30/2015.
  5. Strom SP, Lozano R, Lee H, et al. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. May 1, 2014; 15:49. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072606/. Accessed 3/30/2015.
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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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wiedemann-Steiner syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial cortical myoclonus
  • Hairy elbows, short stature, facial dysmorphism, and developmental delay
  • Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
  • WDSTS
  • Wiedemann Grosse Dibbern 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.