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...

Omphalocele: Causes, Treatment & Support

Omphalocele is an inborn disorder in which a defect in your child's central abdominal wall causes protrusion of the abdominal contents or organs outside...

Tetralogy of Fallot (TOF): Understanding Cardiac Challenges

What is Tetralogy of Fallot? Tetralogy of Fallot is the most common congenital cyanotic heart disease (also known as blue baby disease). It is characterized...

Congenital Syphilis: Diagnoses, Symptoms, Treatment

Syphilis results from infection with Treponema Pallidum. Congenital Syphilis (CS) occurs when the Treponema bacterium is transmitted from the mother to the fetus (unborn...

Pierre Robin Syndrome: Understanding the Condition

Pierre Robin Syndrome, a rare congenital disorder, manifests with facial and mouth deformities that impede breathing. It can occur independently or alongside syndromes like...

Pachyonychia Congenita: Understanding the Rare Nail Disorder

Pachyonychia is a rare disease involving your body's keratin genes. As indicated by its name, it is a congenital condition, meaning it is present...