geleophysic dysplasia

an autosomal recessive lysosomal storage disease caused by mutations in the ADAMTSL2 gene (locus: 9q34.2), which encodes a protein that is believed to play a role in the regulation of transforming growth factor-β signaling. It is marked by a characteristic happy-appearing face, short stature, small hands and feet, thick skin, joint contractures, and progressive cardiac disease.