Which are the symptoms of KBG Syndrome?

KBG Syndrome is a rare genetic disorder that affects various parts of the body. It is characterized by distinct facial features, developmental delays, and intellectual disabilities. Although the symptoms can vary from person to person, there are several key features commonly associated with this syndrome.

Facial Features:

Individuals with KBG Syndrome often have unique facial characteristics that can help in diagnosis. These features may include a prominent forehead, widely spaced eyes (hypertelorism), eyebrows that are thick and arched, a broad nasal bridge, a short and upturned nose, and a thin upper lip.

Developmental Delays:

Children with KBG Syndrome may experience delays in reaching developmental milestones. This can include delays in motor skills such as sitting, crawling, and walking. Speech and language development may also be delayed, with some individuals experiencing difficulties in articulation and expressive language.

Intellectual Disabilities:

Intellectual disabilities are a common feature of KBG Syndrome. The severity can vary, ranging from mild to moderate. Individuals may have difficulties with learning, problem-solving, and abstract thinking. However, it's important to note that intelligence levels can vary widely among affected individuals.

Skeletal Abnormalities:

Some individuals with KBG Syndrome may exhibit skeletal abnormalities. These can include short stature, abnormalities of the fingers and toes (such as extra fingers or toes), and joint problems.

Behavioral and Psychological Issues:

Behavioral and psychological issues can be present in individuals with KBG Syndrome. These may include attention deficit hyperactivity disorder (ADHD), anxiety, and difficulties with social interactions. Some individuals may also exhibit repetitive behaviors or have sensory processing issues.

Other Possible Features:

While less common, there are additional features that have been reported in some individuals with KBG Syndrome. These can include hearing loss, dental abnormalities, heart defects, and kidney problems.

It's important to note that not all individuals with KBG Syndrome will exhibit all of these symptoms. The severity and combination of symptoms can vary widely. Therefore, a comprehensive evaluation by a medical professional is necessary for an accurate diagnosis.