Ear, Nose, And Throat Diseases
- 22q11.2 Deletion Syndrome
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.
- CHARGE Syndrome
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
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.
- Mucopolysaccharidosis type VII (MPS VII), also known as Sly Syndrome
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.