Hao-Fountain syndrome

Hao-Fountain syndrome is a rare genetic disorder that affects development. People with this condition experience global developmental delays, intellectual challenges, and severe delays in speech. The condition is also marked by behavioral differences including impulsivity, stubbornness, and aggressive behaviors, as well as physical features such as deep-set eyes and a prominent nasal septum. This syndrome is linked to changes in the USP7 gene or to a microdeletion in a specific region of the chromosome. These genetic differences can lead to other issues like hypotonia (low muscle tone), feeding difficulties, problems with walking, seizures, and various eye conditions. The behavioral challenges can sometimes be more noticeable when a microdeletion is involved.

Common signs of Hao-Fountain syndrome include global developmental delay, intellectual disability, and severe speech delay. People with this condition may also show behavioral abnormalities such as impulsivity, stubbornness, temper tantrums, and aggressive behaviors. Some may have features of autism spectrum disorder. Additionally, there can be physical symptoms including hypotonia, feeding problems, delayed walking with an unsteady gait, and ocular issues like myopia, strabismus, and nystagmus.

Hao-Fountain syndrome is caused by genetic changes. It can result from a point mutation in the USP7 gene or from a microdeletion on chromosome 16p13.2 where the USP7 gene is partially or completely missing. The type of genetic change may influence the presence and severity of certain behaviors and other symptoms.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.