Genetic disorders

Hypotrichosis: What It Is, Causes, Symptoms, Treatment

Hypotrichosis is a condition characterized by an abnormal deficiency of hair on the scalp or body. It may affect various areas, including the scalp,...

Understanding Phenylketonuria (PKU)

Phenylketonuria (PKU) is a rare inherited metabolic disorder that causes a dangerous buildup of the amino acid phenylalanine in the body. It results from...

Von Willebrand Disease: Causes, Symptoms, and Treatment

Von Willebrand disease is one of the most prevalent blood disorders in the world.Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The...

Goodpasture’s Syndrome: Autoimmunity Gone Wrong

Goodpasture's Syndrome, more accurately referred to today as anti-GBM disease, is a rare autoimmune small vessel vasculitis. In this condition, the immune system produces...

Kleefstra Syndrome: Causes, Symptoms, and Treatment

Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a rare genetic disorder that causes neurodevelopmental...