Weaver-Williams syndrome

Weaver-Williams syndrome is a rare condition that affects growth and development. It is a multiple congenital anomalies syndrome, meaning people with this condition are born with several physical differences. The condition was first described in siblings and involves several body systems including the brain, muscles, and bones. People with Weaver-Williams syndrome often show signs of intellectual disability, meaning they may learn or function at a slower pace than typical peers. In addition, individuals may have a smaller head size (microcephaly) as well as differences in facial features that include prominent ears, a small mouth, and in some cases, a cleft palate. These features and other physical findings can influence overall development.

Common symptoms of Weaver-Williams syndrome include moderate-to-severe intellectual disability, decreased muscle mass, and microcephaly. There are also distinct facial features such as prominent ears, midfacial hypoplasia, a small mouth, and cleft palate. Finger abnormalities like clinodactyly, delayed bone maturation, and generalized bone hypoplasia, have also been reported.

The cause of Weaver-Williams syndrome appears to be genetic. The syndrome has been described in siblings and is suggested to follow an autosomal recessive pattern, meaning that both parents may carry a copy of the gene that leads to the condition. Specific gene mutations have not been identified.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. There have not been new descriptions or studies in the literature since the initial report in 1977.