Cousin Syndrome

Overview

Type of disease: Rare conditions

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.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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