Congenital Disorders

Klinefelter syndrome is a genetic condition that affects males who are born with an extra X chromosome. Instead of the typical XY chromosome pattern, men with Klinefelter [...]

Congenital hydrocephalus is a condition present at birth where an excessive amount of cerebrospinal fluid (CSF) accumulates in the brain. CSF is a clear liquid that surrounds [...]

Muscular dystrophy is a group of genetic disorders that cause progressive muscle weakness and loss of muscle mass. While there are many types of muscular dystrophy, they all [...]

Diamond-Blackfan Anemia (DBA) is a rare blood disorder that affects the body's ability to produce red blood cells. Red blood cells are essential for carrying oxygen [...]

Eisenmenger syndrome is a rare heart condition that occurs due to a congenital heart defect present at birth. This defect affects the way blood flows through the heart, [...]

Epidermolysis bullosa (EB) is a rare genetic condition that causes the skin to be extremely fragile and prone to blistering at the slightest touch. Children born with this [...]

PIK3CA-Related Overgrowth Spectrum (PROS) is a group of rare syndromes that cause certain parts of the body to grow too much or develop an unusual shape. These conditions are [...]

Ewing's sarcoma is a rare type of bone cancer that primarily affects children and young adults. This condition occurs when cancerous tumors grow in the bones or the soft [...]

Galactosemia is a rare metabolic disorder that affects newborns, preventing them from processing galactose, a sugar found in breast milk and formula. If left untreated, [...]

Pompe disease, also known as GAA deficiency or type II glycogen storage disease (GSD), is a rare genetic disorder that affects the body's ability to break down a complex [...]