Overgrowth syndrome with advanced bone age and distinctive facies.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- EED, EZH2, SUZ12
- Alternative names & eponyms
- Weaver–Smith syndrome
Etiology & mechanism
EZH2 variants alter chromatin methylation.
Gene(s) involved (3)
Symptoms & signs (7)
In plain terms, someone with Weaver syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
4 shared
Sotos syndrome
advanced bone age, developmental delay, macrocephaly, tall stature
2 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay, macrocephaly
2 shared
Noonan syndrome
developmental delay, hypertelorism
2 shared
XYY syndrome
macrocephaly, tall stature
1 shared
Aarskog–Scott syndrome
hypertelorism
1 shared
Aicardi syndrome
developmental delay
1 shared
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
macrocephaly
1 shared
Blau syndrome
camptodactyly
1 shared
Brain–lung–thyroid syndrome
developmental delay
1 shared
Camptodactyly–arthropathy–coxa vara–pericarditis syndrome
camptodactyly
Shares genes with
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