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....
Smith Lemli Opitz Syndrome is an autosomal recessive disorder that causes multiple congenital anomalies due to defective cholesterol metabolism. This syndrome restricts the growth...
Fibrodysplasia ossificans progressive (FOP), previously known as myositis ossificans progressiva (MOP) and also referred to as Münchmeyer disease or Stoneman disease, is a rare...
Omphalocele is an inborn disorder in which a defect in your child's central abdominal wall causes protrusion of the abdominal contents or organs outside...
What is Tetralogy of Fallot?
Tetralogy of Fallot is the most common congenital cyanotic heart disease (also known as blue baby disease). It is characterized...
Syphilis results from infection with Treponema Pallidum. Congenital Syphilis (CS) occurs when the Treponema bacterium is transmitted from the mother to the fetus (unborn...