Overgrowth with macrocephaly and developmental delay.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- NFIX, NSD1
- Alternative names & eponyms
- Cerebral gigantism
Etiology & mechanism
NSD1 haploinsufficiency.
Gene(s) involved (2)
Symptoms & signs (9)
In plain terms, someone with Sotos 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
Weaver syndrome
advanced bone age, developmental delay, macrocephaly, tall stature
3 shared
Miller–Dieker syndrome
hypotonia, prominent forehead, seizures
2 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay, macrocephaly
2 shared
Brain–lung–thyroid syndrome
developmental delay, hypotonia
2 shared
Cerebral folate deficiency syndrome
hypotonia, seizures
2 shared
Crigler–Najjar syndrome
hypotonia, seizures
2 shared
Folate malabsorption syndrome
developmental delay, seizures
2 shared
Galloway–Mowat syndrome
developmental delay, seizures
2 shared
Hyperinsulinism–hyperammonemia syndrome
developmental delay, seizures
2 shared
Joubert syndrome
developmental delay, hypotonia
Shares genes with
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