Hao-Fountain syndrome due to 16p13.2 microdeletion

Hao-Fountain syndrome due to 16p13.2 microdeletion is a rare condition that occurs due to a partial deletion of the short arm of chromosome 16. This genetic change can affect development and is associated with challenges in learning, speech, and social skills. People with this condition may experience a variety of features including developmental delay, intellectual disability, and autism spectrum disorder. The syndrome can also involve epilepsy, hypotonia (low muscle tone), and hypogonadism (reduced function of the gonads). Behavioral differences such as impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors have been noted.

Common symptoms include developmental delay, intellectual disability, and speech delay. Other signs include autism spectrum disorder, epilepsy, hypotonia, and hypogonadism. In addition, behavioral challenges such as impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors may be present.

This condition is caused by a microdeletion on the short arm of chromosome 16, specifically at the 16p13.2 region. The deletion leads to a loss of genetic material that is important for normal development and function. Information about specific genes involved is not available.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition. The overall outlook can vary among people, and quality of life may be influenced by the severity of the symptoms and the support available.

Information about current research is currently limited for this condition. Ongoing studies may provide more insights into how this microdeletion affects development and behavior.