Other Names for this Disease
- Weaver Smith syndrome
- Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
- Camptodactyly - overgrowth - unusual facies
- Camptodactyly-overgrowth-unusual facies syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin;
Last updated: 3/16/2016
- Weaver syndrome. Genetics Home Reference. March 2016; https://ghr.nlm.nih.gov/condition/weaver-syndrome.
- Weaver syndrome. Orphanet. January 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447.
- Katrina Tatton-Brown, BMBCh, MD and Nazneen Rahman, BMBCh, PhD. EZH2-Related Overgrowth. GeneReviews. August 2015; http://www.ncbi.nlm.nih.gov/books/NBK148820/.
- Genetics Home Reference contains information on Weaver syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Weaver syndrome. Click on the link to view a sample search on this topic.