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Diseases

Genetic and Rare Diseases Information Center (GARD)

Trismus-pseudocamptodactyly syndrome


Other Names for this Disease
  • Hecht syndrome
  • Dutch-Kentucky syndrome
  • Distal arthrogryposis type 7
  • Arthrogryposis distal type 7
Related Diseases
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Overview

Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function.[1] It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth.[1] The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus).[2] TPS is typically reported to be inherited in an autosomal dominant manner and is caused by mutations in the MYH8 gene.[1][3] Treatment may involve surgical correction and physical therapy.[1][2] 
Last updated: 7/21/2016

References

  1. Carlos R, Contreras E, Cabrera J. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. Oral Dis. 2005 May; http://www.ncbi.nlm.nih.gov/pubmed/15888111.
  2. Lefaivre JF, Aitchison MJ. Surgical correction of trismus in a child with Hecht syndrome. Ann Plast Surg. 2003 Mar; http://www.ncbi.nlm.nih.gov/pubmed/12800911.
  3. Victor A. McKusick. ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7. In: Marla J. F. O'Neill. OMIM. 2/26/2013; http://www.omim.org/entry/158300.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Trismus-pseudocamptodactyly syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hecht syndrome
  • Dutch-Kentucky syndrome
  • Distal arthrogryposis type 7
  • Arthrogryposis distal type 7
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.