ATR-16 syndrome

ATR-16 syndrome is a rare genetic disorder characterized by intellectual disability, minor physical abnormalities, and the absence of a portion of the 16th chromosome. The syndrome is also known as Monosomy 16q22 or 16q terminal deletion.

Symptoms and Signs

The symptoms of ATR-16 syndrome vary widely among affected individuals. Common symptoms include intellectual disability, delayed speech and language skills, and distinctive facial features such as a prominent forehead, widely spaced eyes, and a short nose with a broad tip. Some individuals may also have minor physical abnormalities such as heart defects, kidney abnormalities, and skeletal anomalies.

Causes

ATR-16 syndrome is caused by a deletion of genetic material from the long arm (q) of chromosome 16. The deletion occurs near the end of the chromosome at a location designated q22. The size of the deletion varies among affected individuals. It is not yet known which missing genes contribute to the specific features of the syndrome.

Diagnosis

Diagnosis of ATR-16 syndrome is based on clinical examination and confirmed by genetic testing, which can identify the characteristic chromosome deletion. Other tests, such as echocardiography for heart defects and ultrasound for kidney abnormalities, may be used to assess the presence of physical abnormalities.

Treatment

There is currently no cure for ATR-16 syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support for intellectual disability. Regular follow-up with a team of healthcare providers is recommended to monitor and manage the various health issues associated with the syndrome.

Prognosis

The prognosis for individuals with ATR-16 syndrome varies depending on the severity of symptoms and the presence of physical abnormalities. With appropriate support and management, many individuals with the syndrome can lead fulfilling lives.

See Also

• Chromosome 16
• Genetic disorder
• Intellectual disability

NIH genetic and rare disease info

• NIH info on ATR-16 syndrome

ATR-16 syndrome is a rare disease.

ATR-16 syndrome Resources
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