Proximal 16p11.2 Microdeletion Syndrome is a genetic disorder caused by the deletion of a small piece of genetic material on chromosome 16. This condition is characterized by a range of physical, developmental, and neurological symptoms. Individuals with this syndrome may exhibit a variety of signs, although the severity and specific symptoms can vary widely from person to person.
Developmental delays and intellectual disability: One of the primary features of Proximal 16p11.2 Microdeletion Syndrome is developmental delay, which can affect various aspects of a person's growth and development. This may include delays in reaching developmental milestones such as sitting, crawling, walking, and talking. Intellectual disability is also commonly observed, with individuals typically experiencing mild to moderate cognitive impairment.
Autism spectrum disorder: Many individuals with Proximal 16p11.2 Microdeletion Syndrome also exhibit characteristics of autism spectrum disorder (ASD). These may include difficulties with social interaction, communication challenges, repetitive behaviors, and restricted interests. However, not all individuals with this syndrome will have ASD.
Physical features: While not always present, some physical features have been associated with Proximal 16p11.2 Microdeletion Syndrome. These can include a long, narrow face; a prominent forehead; a high, arched palate; and abnormalities of the hands and feet, such as long fingers and toes or overlapping digits.
Behavioral and psychiatric issues: Individuals with this syndrome may also experience behavioral and psychiatric issues. These can range from attention deficit hyperactivity disorder (ADHD) and anxiety to mood disorders such as depression and bipolar disorder. Some individuals may also exhibit aggression or self-injurious behaviors.
Seizures: Seizures are another potential symptom of Proximal 16p11.2 Microdeletion Syndrome. These can vary in type and severity, ranging from mild absence seizures to more severe generalized tonic-clonic seizures.
Obesity: It has been observed that individuals with Proximal 16p11.2 Microdeletion Syndrome have an increased risk of obesity. This may be due to a combination of genetic factors and metabolic abnormalities.
Other possible features: Additional features that have been reported in some individuals with this syndrome include vision problems, hearing loss, gastrointestinal issues, and structural abnormalities of the heart.
It is important to note that not all individuals with Proximal 16p11.2 Microdeletion Syndrome will exhibit all of these symptoms. The specific combination and severity of symptoms can vary widely, even among affected family members. Therefore, it is crucial for individuals suspected of having this syndrome to undergo comprehensive medical evaluations and genetic testing to confirm the diagnosis and provide appropriate care and support.