Thus, on the endogamous genetic background of Indian Tamils, SOST1 from sclerostin deficiency compared to SOST2 from LRP4 deactivation is a more severe and life-threatening disorder featuring complications due to osteosclerosis of especially the skull.
Sclerosteosis and Van Buchem disease are two rare bone sclerosing disorders characterized by increased bone mineral density, tall stature and entrapment of cranial nerves due to overgrowth of a highly dense bone.
Individuals who are homozygous for this mutation have sclerosteosis, a disease with no detectable circulating sclerostin, resulting in generalized osteosclerosis with skeletal deformities, cranial nerve compression, and increased intracranial pressure due to boney overgrowth in the skull, and premature death.