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Genetic and Rare Diseases Information Center (GARD)

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Cousin syndrome

Other Names for this Disease
  • Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature
  • Pelviscapular dysplasia
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Your Question

I 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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What is Cousin syndrome?

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