Developer site: The content shown here is test data.

MyEClinic
MyEClinic
Health Dictionary AI Health Chat Find an Online Doctor
A serene Zen garden with raked sand and smooth stones, symbolising clarity and calm

Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

Back to skin conditions

Weaver syndrome

Introduction

Overview

Overview

Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974.[1]

It can be associated with NSD1.[2]

References

References

  1. ↑ Weaver DD, Graham CB, Thomas IT, Smith DW (1974). “A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly”. J. Pediatr. 84 (4): 547–52. PMID 4366187.
  2. ↑ Douglas J, Hanks S, Temple IK; et al. (2003). “NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes”. Am. J. Hum. Genet. 72 (1): 132–43. PMID 12464997.

Template:Phakomatoses and other congenital malformations not elsewhere classified