Leptin Deficiency, also known as Congenital leptin deficiency (CLD), is a rare inherited disorder that causes early-onset obesity (in infants). Patients are born with normal weight, but they become...
What is Zellweger Syndrome?
Zellweger syndrome is a rare genetic disorder that disrupts cellular function and usually appears soon after birth. Named after Dr. Hans...
Syphilis results from infection with Treponema Pallidum. Congenital Syphilis (CS) occurs when the Treponema bacterium is transmitted from the mother to the fetus (unborn...
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 Pompe Disease?
Pompe disease, also referred to as Glycogen Storage Disease Type II (GSDII), is a rare genetic disorder characterized by muscle wasting...
Lennox Gastaut Syndrome is an epileptic disorder that occurs in infants and children. This condition is also called childhood encephalopathy. Infants or children with...