Inherited Disease

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 delays, intellectual disability, typical facial...

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...