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...
Krabbe’s Disease: A Rare and Fatal Neurological Disorder
What is Krabbe Disease?
Krabbe disease, also known as "Globoid Cell Leukodystrophy," belongs to the group of lysosomal storage disorders (LSDs), specifically the sphingolipidoses. It...
Tangier Disease: Causes, Symptoms and Risks
Tangier Disease is a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol, also known as "good cholesterol." It is...
Hypoplastic Left Heart Syndrome: Causes, Symptoms & Care
Hypoplastic Left Heart Syndrome is a pathological condition in which the left heart chamber and its structures (mitral valve, aortic arch, ascending aorta, aortic...
Dravet Syndrome: Understanding This Severe Epilepsy
Dravet syndrome is a rare and catastrophic form of epilepsy that begins in infancy or early childhood. It is characterized by prolonged and recurrent...
