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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Your QuestionI would like information on Cousin syndrome so that I may have an understanding what it is and how to help my friend when needed as I haven't found any helpful information on the internet for this condition.
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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. Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.
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.