Congenital Disorders

Beckwith-Wiedemann Syndrome: Causes, Signs & Diagnosis

Beckwith-Wiedemann Syndrome (BWS) is a rare congenital disorder that causes abnormal growth in infants and children. It involves changes in genes on chromosome 11p15,...

Cohen Syndrome: Rare Genetic Disorder Explained

Cohen syndrome, also known as Norio syndrome in Finnish populations, is a rare autosomal recessive genetic disorder that affects multiple body systems—hence it is...

Hydrocele: Symptoms, Causes, and When to Seek Treatment

A hydrocele is a fluid-filled sac within the scrotum (skin pouch that houses the testicles). The disorder most commonly affects male infants but may...

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,...

Blue Baby Syndrome: Causes, Signs, and Prevention

Blue baby syndrome, also referred to as infant methemoglobinemia (when caused by nitrate exposure), is a rare condition characterized by a bluish or purplish...

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...