Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, a progressive condition that affects most tissues and organs.
CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births.
Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition.