ATR-X syndrome
ATR-X Syndrome
ATR-X Syndrome (pronounced: A-T-R-X Syndrome), also known as Alpha Thalassemia X-Linked Intellectual Disability Syndrome, is a rare genetic disorder that primarily affects males.
Etymology
The name ATR-X is an acronym derived from Alpha Thalassemia/mental Retardation, X-linked. Alpha Thalassemia refers to a blood disorder that affects hemoglobin, while the X-linked refers to the gene's location on the X chromosome.
Definition
ATR-X Syndrome is a condition that causes a variety of physical and intellectual disabilities, including developmental delay, distinctive facial features, and skeletal abnormalities. It is caused by mutations in the ATRX gene.
Symptoms
Symptoms of ATR-X Syndrome include intellectual disability, developmental delay, dysmorphic facial features, skeletal abnormalities, and alpha thalassemia. Some individuals may also have seizures, gastrointestinal problems, and urogenital abnormalities.
Genetics
ATR-X Syndrome is caused by mutations in the ATRX gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner, meaning that males are affected while females are typically carriers.
Diagnosis
Diagnosis of ATR-X Syndrome is based on clinical features and confirmed by genetic testing of the ATRX gene.
Treatment
There is currently no cure for ATR-X Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational services, and management of medical complications.
Prognosis
The prognosis for individuals with ATR-X Syndrome varies. Some individuals may have a normal lifespan with appropriate management of medical complications, while others may have a shortened lifespan due to severe medical complications.
See Also
External links
- Medical encyclopedia article on ATR-X syndrome
- Wikipedia's article - ATR-X syndrome
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