Genetic disorders

Acute Hepatic Porphyria: Symptoms, Causes & Management

What is Acute Hepatic Porohria? Acute hepatic porphyria (AHP) is a group of metabolic disorders characterized by the buildup of specific molecules known as porphyrins...

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...

Pompe Disease: Understanding Symptoms & Treatments

What is Pompe Disease? Pompe disease, also referred to as Glycogen Storage Disease Type II (GSDII), is a rare genetic disorder characterized by muscle wasting...

Dystrophic Epidermolysis Bullosa: A Rare Skin Disorder

Dystrophic Epidermolysis Bullosa is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with...

Ichthyosis Vulgaris: Symptoms, Causes & Treatment

What is Ichthyosis Vulgaris? Ichthyosis is a skin disease that has many variants. The term "ichthyosis" is derived from the Greek word "ichthys," meaning fish,...