Weaver syndrome or Weaver-Smith syndrome was first described in 1974 by Weaver and his colleagues. They described the condition in two children who showed advanced bone growth and age, and a characteristic appearance of the face.
Though the syndrome may occur in an individual without any family history, in some cases, it is inherited from the parents. Scientists have suggested that the syndrome may be due to a mutation in the EZH2 gene.
Characteristic features of a patient with Weaver syndrome include:
- Advanced bone age with an increase in height
- Characteristic appearance of the face in childhood - a large, round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.
- Developmental delay in the early years
Around 40 cases of Weaver syndrome have been described till date. Since the condition is very rare, the exact cause of the syndrome has not been yet established. If the child survives the childhood, the life expectancy may be normal, at least till early adulthood. The final height of an adult with Weaver syndrome may be much more than in a normal person. The facial features change through childhood and adolescence.
Diagnosis of Weaver syndrome is made based on the characteristic features especially observed during infancy and childhood, and radiological studies that demonstrate an increase in bone age. Weaver syndrome should be differentiated from three other syndromes that result in accelerated bone age. These syndromes include Sotos syndrome, Ruvalcaba-Myhre-Smith syndrome and Marshall-Smith syndrome.
- Cole TRP, Dennis NR, Hughes HE. Weaver syndrome. J Med Genet 1992; 29: 332-337.
- William T. Gibson et al. Mutations in EZH2 Cause Weaver Syndrome. The American Journal of Human Genetics 2012; 90:110–118.