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...
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...
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...
Carpenter Syndrome: Causes, Symptoms, and Treatment Options
Carpenter Syndrome, also known as acrocephalopolysyndactylyl type Ⅱ, is a rare genetic disorder that causes multiple deformities in infants. It is primarily caused by...
Myotonia Congenita: Symptoms And Treatment
Myotonia Congenita (MC) is a rare inherited neuromuscular disorder in which the muscles are not able to relax after contraction. This results in muscle...
