Weaver syndrome, also known as Weaver-Smith syndrome, is a rare genetic disorder characterized by overgrowth and developmental delays. It was first described in 1974 by Dr. David Weaver and Dr. Evan Smith. This condition primarily affects physical growth and development, leading to distinctive facial features, skeletal abnormalities, and intellectual disabilities.
The symptoms of Weaver syndrome can vary in severity from person to person. However, there are several key features commonly associated with this condition:
Excessive growth is a hallmark characteristic of Weaver syndrome. Infants with this condition are often larger than average at birth and continue to grow rapidly during childhood. This overgrowth primarily affects the height and weight of individuals, resulting in a tall stature.
Weaver syndrome is typically associated with distinct facial features, including:
Weaver syndrome can affect the skeletal system, leading to various abnormalities, such as:
Individuals with Weaver syndrome often experience developmental delays in various areas, including motor skills, speech and language, and cognitive abilities. These delays can range from mild to severe, impacting an individual's overall intellectual functioning.
Additional features that may be present in individuals with Weaver syndrome include:
It is important to note that not all individuals with Weaver syndrome will exhibit every symptom mentioned above. The severity and combination of symptoms can vary, making each case unique.
If you suspect that you or your child may have Weaver syndrome, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management.