Marfan syndrome is a genetic disorder that affects the connective tissue in the body, leading to a range of symptoms…
Phenylketonuria (PKU) is a rare genetic disorder that affects the body's ability to metabolize an amino acid called phenylalanine. If…
Huntington's disease (HD), also known as Huntington's chorea, is a rare, inherited neurodegenerative disorder that typically presents in adulthood. However,…
Tay-Sachs disease is a rare and severe genetic disorder that primarily affects the nervous system. It is most commonly seen…
Fragile X syndrome (FXS) is a genetic disorder that is characterized by intellectual and developmental disabilities. It is one of…
Neurofibromatosis (NF) is a genetic disorder that affects the nervous system, primarily causing the growth of tumors on nerves throughout…
Muscular dystrophy (MD) refers to a group of genetic disorders that primarily affect the muscles, leading to muscle weakness, muscle…
Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when there is an extra copy of…
Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory, digestive, and sweat glands. It is one of…
A pediatric geneticist is a medical specialist who focuses on the diagnosis, management, and counseling of children and families with…