SNP Shot: Genomic Insights

Weaver syndrome is a disorder characterized by above-average height, sometimes accompanied by an enlarged head (macrocephaly). Individuals with this syndrome often experience mild intellectual disability and have distinctive facial characteristics. These features may include a wide forehead, widely set eyes (hypertelorism), large and low-positioned ears, a dimpled chin, and a small lower jaw (micrognathia).

Individuals affected by Weaver syndrome may also present with joint contractures, which limit the range of motion in the affected joints. These contractures are often seen in the fingers and toes, leading to permanently bent digits (camptodactyly). Additional characteristics of the disorder can involve abnormal spinal curvature (kyphoscoliosis), decreased (hypotonia) or increased (hypertonia) muscle tone, loose skin, and an umbilical hernia (a soft bulge near the belly button). Brain imaging may reveal abnormalities in the brain's folds (gyri) in some affected individuals; however, the connection between these brain changes and the intellectual disability associated with Weaver syndrome is not fully understood.

Studies indicate a possible increased risk of cancer in individuals with Weaver syndrome, particularly a slightly elevated risk of neuroblastoma, a type of tumor, in early childhood. However, due to the rarity of Weaver syndrome, accurately determining the precise cancer risk remains challenging.

Inheritance:

Weaver syndrome is typically inherited through an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene within each cell is enough to cause the condition. In most instances, Weaver syndrome arises from new genetic mutations and occurs in individuals with no family history of the disorder. In a few cases, an affected individual inherits the mutation from a parent who also has the condition.