Genetic disorders

Glanzmann Thrombasthenia: Causes, Symptoms & Diagnosis

Glanzmann thrombasthenia (GT) is a bleeding disorder caused by impaired platelet function. It’s characterized by lifelong episodes of bleeding, often presenting as a spontaneous bleed after a minor trauma...

Glanzmann Thrombasthenia: Causes, Symptoms & Diagnosis

Glanzmann thrombasthenia (GT) is a bleeding disorder caused by impaired platelet function. It’s characterized by lifelong episodes of bleeding, often presenting as a spontaneous...

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...

Castleman Disease: Uncovering the Mysterious Illness

Castleman disease (CD) refers to a rare, nonclonal lymphoproliferative disorder characterized by abnormal overgrowth of lymph node tissue. Lymph nodes are small, bean-shaped structures...

Hemophilia: Understanding the Rare Bleeding Disorder

Hemophilia is a rare, inherited bleeding disorder where the blood doesn't clot properly due to the absence or low levels of specific clotting factors....

Bardet-Biedl Syndrome: Understanding This Rare Disorder

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple body systems, usually starting in early childhood. It is inherited in an autosomal...

Pickwickian Syndrome: Causes, Symptoms, and Care

Pickwickian syndrome, also known as Obesity hypoventilation syndrome (OHS), is a breathing disorder that develops in some obese people. The syndromic disorder is...