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Congenital Disorders

Blood

Von Willebrand Disease: Causes, Symptoms, and Treatment

Dr. Shama Nosheen -
Von Willebrand disease is one of the most prevalent blood disorders in the world.Bowman M, Hopman WM, Rapson...
Congenital Disorders

Kleefstra Syndrome: Causes, Symptoms, and Treatment

Dr. Moeez Nadeem -
Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a...
Congenital Disorders

Carpenter Syndrome: Causes, Symptoms, and Treatment Options

Dr. Moeez Nadeem -
Carpenter Syndrome, also known as acrocephalopolysyndactylyl type Ⅱ, is a rare genetic disorder that causes multiple deformities in...
Congenital Disorders

Krabbe’s Disease: A Rare and Fatal Neurological Disorder

Abdul Qadir -
What is Krabbe Disease? Krabbe disease, also known as "Globoid Cell Leukodystrophy," belongs to the group of lysosomal storage...

Dandy Walker Malformation: Symptoms, Causes & Treatments

Congenital Disorders Dr. Shama Nosheen Dr. Shama Nosheen -
Dandy-walker malformation is a congenital or inborn brain disorder in which some of your child's brain structures remain underdeveloped (malformed). It results in neurological...
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