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