Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Weaver syndrome

Synonym(s) Camptodactyly - overgrowth - unusual facies
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Not applicable
Age of onset Neonatal
  • Q87.3
  • C0265210
  • C536687
MedDRA -


Weaver syndrome is an overgrowth syndrome characterized by accelerated osseous maturation associated with craniofacial, limb, neurological and other anomalies. Craniofacial manifestations consist of macrocephaly, broad forehead, hypertelorism, telecanthus, large and low-set ears, long and prominent philtrum and relative micrognathia. Limb anomalies include prominent finger pads, thin and deeply-set nails, camptodactyly, wide distal long bones, foot deformities, and broad thumbs. Psychomotor retardation, hoarse and low-pitched voice, hypertonia, umbilical and inguinal hernia, and excess loose skin are also associated. This syndrome is extremely rare as only about 30 cases have been reported so far. Most of them are sporadic, nevertheless two families with dominant autosomal transmission have been described. Mutations in the NSD1 gene (nuclear receptor binding SET domain protein 1) which have been associated with Sotos syndrome (another overgrowth syndrome) have been found in 3 patients with Weaver syndrome (among the 7 tested). These mutations are located in one small part of the gene when they are associated with Weaver syndrome. The exact pathophysiology and the etiology of other cases remain unknown. Prognosis is variable, most patients have normal life span and their adult height is normal. No curative treatment is available, however multidisciplinary (i.e., neurological, pediatric, orthopedic and psychomotor care, genetic counseling, ...) management must be adapted to each case.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Clinical genetics review
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.