SILVER-RUSSELL SYNDROME; SRS
Victor A. McKusick, OMIM, Johns Hopkins University, June 10, 2009
SILVER-RUSSELL DWARFISM Gene map locus 11p15.5, 7p11.2
Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; 130650), an overgrowth syndrome (Bartholdi et al., 2009).

This article was judged to be an excellent summary of Silver-Russell Syndrome as of 8/10/2009

Russell-Silver Syndrome
The MAGIC Foundation, May 31, 2009
[Support Groups]
INTRODUCTION ... variation in phenotype ... Some individuals ... severe phenotype, while others have very few traits, thus a mild phenotype ... The diagnosis of Russell-Silver syndrome is still a judgment call on a physician's part ... body asymmetry -LARGE side is "normal" side ... inadequate catch-up growth in first 2 years ... persistently low weight-for-heightlack of interest in eating ... lack of muscle mass and/or poor muscle tone ... broad forehead ... large head size for body size ... hypoplastic (underdeveloped) chin & midface ... downturned corners of mouth & thin upper lip ... high-arched palate ... small, crowded teeth ... low-set, posteriorly rotated &/or prominent ears ... unusually, high-pitched voice in early years ... clinodactly (inward curving) of the 5th finger ... syndactyly (webbing) of the 2nd and 3rd toes ... hypospadius - abnormal opening of the penis ... cryptorchidism - undescended testicles ... café-au-lait (coffee-with-milk) birth marks ... dimples in the posterior shoulders and hips ... narrow, flat feet · ... scoliosis - curved spine, associated with spinal asymmetry and accentuated by a short leg ...

• fasting hypoglycemia & mild metabolic acidosi
• generalized intestinal movement abnormalities:
  • esophageal reflux resulting in movement of food up from stomach into food tube
  • delayed stomach emptying resulting in vomiting or frequent spitting up
  • slow movement of the small intestine &/or large intestine (constipation)
• blue sclera (bluish tinge in white of eye)
• late closure of the anterior fontanel (soft spot)
• frequent ear infections or chronic fluid in ears
• congenital absence of the second premolars
• delay of gross and fine motor development
• delay of speech and oral motor development
• kidney abnormalities
• delayed bone age early, later fast advancement
• early pubic hair and underarm odor (adrenarche)
• early puberty or rarely true precocious puberty
• classical or neurosecretory growth hormone deficiency
• ADD and specific learning disabilities

________________________________________________________________________________________________

Last Updated: 2009/8/11

________________________________________________________________________________________________