Understanding Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare inherited metabolic disorder that causes a dangerous buildup of the amino acid phenylalanine in the body. It results from...
Kleefstra Syndrome: Causes, Symptoms, and Treatment
Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a rare genetic disorder that causes neurodevelopmental...
Carpenter Syndrome: Causes, Symptoms, and Treatment Options
Carpenter Syndrome, also known as acrocephalopolysyndactylyl type Ⅱ, is a rare genetic disorder that causes multiple deformities in infants. It is primarily caused by...
Myotonia Congenita: Symptoms And Treatment
Myotonia Congenita (MC) is a rare inherited neuromuscular disorder in which the muscles are not able to relax after contraction. This results in muscle...
Zellweger Syndrome: Shedding Light on the Rare Genetic Disorder
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...
Alagille Syndrome: Understanding & Managing This Rare Disorder
Alagille syndrome is a genetic condition that primarily affects the liver but can also impact other organs, such as the heart, kidneys, and eyes....
