What is Pearson Syndrome?
Pearson Syndrome is a rare, fatal mitochondrial disorder characterized by multisystem involvement, commonly affecting the bone marrow and pancreas. With an incidence of approximately one in...
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, a rare congenital disorder, manifests with facial and mouth deformities that impede breathing. It can occur independently or alongside syndromes like...
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 is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with...
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,...