Adams–Nance syndrome
Adams–Nance syndrome is a rare genetic disorder characterized by congenital heart disease, urinary tract abnormalities, and mild mental retardation. The syndrome was first described by Adams and Nance in 1972.
Symptoms and Signs[edit | edit source]
The symptoms of Adams–Nance syndrome can vary greatly from person to person. However, the most common symptoms include:
- Congenital heart disease: This is a condition that is present at birth and affects the structure and function of the heart.
- Urinary tract abnormalities: These can include problems with the kidneys, bladder, ureters, and urethra.
- Mild mental retardation: This refers to a lower than average intellectual ability that is present from birth or childhood.
Causes[edit | edit source]
Adams–Nance syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. It is believed to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene for a child to be affected.
Diagnosis[edit | edit source]
The diagnosis of Adams–Nance syndrome is typically made based on the presence of the characteristic symptoms. Genetic testing may also be used to confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Adams–Nance syndrome. Treatment is focused on managing the symptoms and improving the quality of life for those affected. This may include medications to manage heart disease, surgery to correct urinary tract abnormalities, and educational support for those with mental retardation.
See also[edit | edit source]
References[edit | edit source]
Adams–Nance syndrome Resources | |
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Contributors: Prab R. Tumpati, MD