A rare genetic condition known as Elin facies with hypercalcemia is characterized by developmental delays both before and after birth, short stature, varying degrees of mental deficiency, and distinctive facial features that usually become more obvious with age. It is named after Williams and Beuren, who first identified it. As a result, Williams-Beuren syndrome is another name for it.The majority of Williams syndrome cases  Read More

Axenfled-Rieger syndrome/growth retardation-rieger anomaly is an autosomal dominant disorder. Unlike recessive disorders, these disorders do not need the causative mutations in the respective gene to be homozygous, which means even a single defective allele in a genotype reflects on the phenotype. Characteristically, the disorder causes ocular abnormalities and exhibits systemic conditions, including dental abnormalities,  Read More