Silver–Russell syndrome

Also known as: Russell–Silver syndrome

Imprinting disorder with intrauterine and postnatal growth restriction and relative macrocephaly.

Medical 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

Etiology & mechanism

Loss of paternal methylation at 11p15 or maternal uniparental disomy 7.

Gene(s) involved (6)

CDKN1CH19HMGA2IGF2PLAG1UPD7

Symptoms & signs (8)

body asymmetryfeeding difficultyfifth finger clinodactylyhypoglycemiaintrauterine growth restrictionrelative macrocephalyshort staturetriangular face

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.