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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cousin syndrome


Other Names for this Disease
  • Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature
  • Familial pelvis-scapular dysplasia
  • Pelviscapular dysplasia
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Overview

Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips. Intelligence may vary from normal to moderately delayed.[1] Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.[2]
Last updated: 10/18/2013

References

  1. Pr Raoul Hennekam. Pelviscapular dysplasia. Orphanet. December 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333. Accessed 10/10/2013.
  2. Lausch, et al. Am J Hum Genet. November 17, 2008; 83:649-655. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668032/. Accessed 10/10/2013.
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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 Cousin syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature
  • Familial pelvis-scapular dysplasia
  • Pelviscapular dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.