Phenylketonuria (PKU) in children
Phenylketonuria (PKU) is a rare genetic disorder that affects the body’s ability to metabolize an amino acid called phenylalanine. If […]
Phenylketonuria (PKU) in children Read More »
Phenylketonuria (PKU) is a rare genetic disorder that affects the body’s ability to metabolize an amino acid called phenylalanine. If […]
Phenylketonuria (PKU) in children Read More »
Huntington’s disease (HD), also known as Huntington’s chorea, is a rare, inherited neurodegenerative disorder that typically presents in adulthood. However,
Huntington’s Disease in children Read More »
Tay-Sachs disease is a rare and severe genetic disorder that primarily affects the nervous system. It is most commonly seen
Tay-Sachs Disease in children Read More »
Fragile X syndrome (FXS) is a genetic disorder that is characterized by intellectual and developmental disabilities. It is one of
Fragile X Syndrome in children Read More »
Neurofibromatosis (NF) is a genetic disorder that affects the nervous system, primarily causing the growth of tumors on nerves throughout
Neurofibromatosis in children Read More »
Muscular dystrophy (MD) refers to a group of genetic disorders that primarily affect the muscles, leading to muscle weakness, muscle
Muscular Dystrophy in children Read More »
Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when there is an extra copy of
Down syndrome in children Read More »
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
Issues treated by pediatric geneticists Read More »
Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein responsible for carrying oxygen
Thalassemia in children Read More »