| Weaver syndrome | |
|---|---|
| Other names | Weaver–Smith syndrome |
| Specialty | Medical genetics  |
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities.[1] It is similar to Sotos syndrome and is classified as an overgrowth syndrome.
Its genetic cause was identified in 2011 as mutations in the EZH2 gene.[2] Forty-eight cases had been documented and confirmed as of December 2013[update],[3] and its prevalence is estimated to be similar to that of Sotos syndrome, around 1 in 15,000.[4] It was first described by American physician David Weaver in 1974.[5]
- ^ CRAWFORD, MARK W., and DENISE ROHAN. "The Upper Airway In Weaver Syndrome." Pediatric Anesthesia 15.10 (2005): 893-896. Health Source: Nursing/Academic Edition.
- ^ Gibson, William T.; Hood, Rebecca L.; Zhan, Shing Hei; Bulman, Dennis E.; Fejes, Anthony P.; Moore, Richard; Mungall, Andrew J.; Eydoux, Patrice; Babul-Hirji, Riyana; An, Jianghong; Marra, Marco A. (2012-01-13). "Mutations in EZH2 cause Weaver syndrome". American Journal of Human Genetics. 90 (1): 110–118. doi:10.1016/j.ajhg.2011.11.018. ISSN 1537-6605. PMC 3257956. PMID 22177091.
- ^ Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M.; Clericuzio, Carol L.; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances (December 2013). "Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype" (PDF). American Journal of Medical Genetics. Part A. 161A (12): 2972–2980. doi:10.1002/ajmg.a.36229. ISSN 1552-4833. PMID 24214728. S2CID 24616267.
- ^ "Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider" (PDF). UK Genetic Testing Network. September 2012. Archived from the original (PDF) on 5 November 2019. Retrieved 5 November 2019.
- ^ Weaver DD, Graham CB, Thomas IT, Smith DW (1974). "A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and al=J. Pediatr". The Journal of Pediatrics. 84 (4): 547–52. doi:10.1016/s0022-3476(74)80675-x. PMID 4366187.