Weaver Syndrome

Weaver syndrome is a congenital disorder characterized by abnormally rapid growth the prenatal until the adolescent stage. Individuals with this rare condition have distinctive advanced skeletal maturation and neurological abnormalities.

Their symptoms include mild intellectual disability, poor coordination, delayed motor development, speech delay, behavioral problems, epilepsy, large ears, large head, long philtrum, abnormal positioning of the jaw, distinguishable chin crease, and strabismus. Other people with this syndrome may also present with loose skin, thin hair, limit extension of limbs, and a permanently bent finger(s). This syndrome was first described by David Weaver in 1974. Weaver Syndrome is attributed to gene mutation but the exact cause is unknown as many cases do not have family history. There is no known cure but with proper management, patients can have a normal lifespan.