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Congenital Disorders

Congenital Disorders

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 is a rare, autosomal recessive...
Abdul Qadir -
Congenital Disorders

Tangier Disease: Causes, Symptoms and Risks

Irum Shoukat -
Tangier Disease is a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol, also...
Congenital Disorders

Hypoplastic Left Heart Syndrome: Causes, Symptoms & Care

Dr. Shama Nosheen -
Hypoplastic Left Heart Syndrome is a pathological condition in which the left heart chamber and its structures (mitral...
Congenital Disorders

Hurler Syndrome: Understanding Its Causes & Treatments

Dr. Asmaa Qamar -
Hurler syndrome is a lysosomal storage condition that occurs due to mutations in the IDUA gene on chromosome...
Congenital Disorders

Smith Lemli Opitz Syndrome: Understanding Its Impact & Care

Dr. Shama Nosheen -
Smith Lemli Opitz Syndrome is an autosomal recessive disorder that causes multiple congenital anomalies due to defective cholesterol...

Port-Wine Stain: Causes, Treatment & Complications

Congenital Disorders Dr. Ayesha Maqsood Dr. Ayesha Maqsood -
Port-wine stain is a non-cancerous condition some babies are born with. It is named so because it looks like wine was splashed on the...

DiGeorge Syndrome: A Closer Look

Congenital Disorders Dr. Ayesha Bukhari Dr. Ayesha Bukhari -
What is DiGeorge Syndrome? DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disease that is present from birth. The main reason...

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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