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Other Names for this Disease
- Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature
- Pelviscapular dysplasia
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 Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.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.
Last updated: 10/18/2013
- 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.
- 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
- The Online Mendelian Inheritance in Man (OMIM) is an 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.