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Diseases

Genetic and Rare Diseases Information Center (GARD)

Weaver syndrome


Other Names for this Disease
  • Weaver Smith syndrome
  • WSS
  • Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
  • Camptodactyly - overgrowth - unusual facies
  • Camptodactyly-overgrowth-unusual facies syndrome
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Overview

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; 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.[1][2][3] Treatment is based on the signs and symptoms present in each person.[3]
Last updated: 3/16/2016

References

  1. Weaver syndrome. Genetics Home Reference. March 2016; https://ghr.nlm.nih.gov/condition/weaver-syndrome.
  2. Weaver syndrome. Orphanet. January 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447.
  3. Katrina Tatton-Brown, BMBCh, MD and Nazneen Rahman, BMBCh, PhD. EZH2-Related Overgrowth. GeneReviews. August 2015; http://www.ncbi.nlm.nih.gov/books/NBK148820/.
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Basic Information

  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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.
Other Names for this Disease
  • Weaver Smith syndrome
  • WSS
  • 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.