Hurler syndrome is a lysosomal storage condition that occurs due to mutations in the IDUA gene on chromosome 4, leading to a deficiency or absence of the enzyme alpha-L-iduronidase....
Pierre Robin Syndrome, a rare congenital disorder, manifests with facial and mouth deformities that impede breathing. It can occur independently or alongside syndromes like...
What is DiGeorge Syndrome?
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disease that is present from birth. The main reason...
Dandy-walker malformation is a congenital or inborn brain disorder in which some of your child's brain structures remain underdeveloped (malformed). It results in neurological...