Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

KBG syndrome

Información en español

Other Names for this Disease
  • Short stature - facial and skeletal anomalies - intellectual disability - macrodontia
  • Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically.[1][2]
Last updated: 6/18/2015

References

  1. KBG syndrome. Genetics Home Reference. January, 2015; http://ghr.nlm.nih.gov/condition/kbg-syndrome.
  2. Marla J. F. O'Neill. KBG SYNDROME; KBGS. OMIM. September 12, 2011; http://www.omim.org/entry/148050.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on KBG syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 KBG syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Short stature - facial and skeletal anomalies - intellectual disability - macrodontia
  • Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.