Congenital Disorders

Hypotrichosis: What It Is, Causes, Symptoms, Treatment

Hypotrichosis is a condition characterized by an abnormal deficiency of hair on the scalp or body. It may affect various areas, including the scalp,...

Blue Baby Syndrome: Causes, Signs, and Prevention

Blue baby syndrome, also referred to as infant methemoglobinemia (when caused by nitrate exposure), is a rare condition characterized by a bluish or purplish...

Von Willebrand Disease: Causes, Symptoms, and Treatment

Von Willebrand disease is one of the most prevalent blood disorders in the world.Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The...

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...