Endocrinology · Endocrinology / Pediatric endocrinology
Silver–Russell syndrome
also: Russell–Silver syndrome
Imprinting disorder with intrauterine and postnatal growth restriction and relative macrocephaly.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- CDKN1C, H19, HMGA2, IGF2, PLAG1, UPD7
- Alternative names & eponyms
- Russell–Silver syndrome
Etiology & mechanism
Loss of paternal methylation at 11p15 or maternal uniparental disomy 7.
Gene(s) involved (6)
Symptoms & signs (8)
In plain terms, someone with Silver–Russell 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
2 shared
Costello syndrome
feeding difficulty, short stature
2 shared
Floating-Harbor syndrome
short stature, triangular face
2 shared
Pituitary stalk interruption syndrome
hypoglycemia, short stature
2 shared
SHORT syndrome
short stature, triangular face
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Acute fatty liver of pregnancy syndrome
hypoglycemia
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
Shares genes with
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