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Genetic and Rare Diseases Information Center (GARD)

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Myhre syndrome


Other Names for this Disease

  • Facial dysmorphism - intellectual deficit - short stature - hearing loss
  • Growth mental deficiency syndrome of Myhre
  • LAPS syndrome
  • Laryngotracheal stenosis, arthropathy, prognathism, and short stature
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

Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness.[1] Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation.[2]
Last updated: 3/17/2014

References

  1. Myhre Syndrome. National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1075/viewAbstract. Accessed 3/17/2014.
  2. Myhre syndrome. Genetics Home Reference (GHR). Januray 2013; http://ghr.nlm.nih.gov/condition/myhre-syndrome. Accessed 3/17/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Myhre 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

  • The 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 Myhre syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Facial dysmorphism - intellectual deficit - short stature - hearing loss
  • Growth mental deficiency syndrome of Myhre
  • LAPS syndrome
  • Laryngotracheal stenosis, arthropathy, prognathism, and short stature
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.