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Silver-Russell Syndrome

International Birth Defects Information Systems

Silver-Russell Syndrome
Russell-Silver Dwarfism

Topics: | Silver Russell Syndrome | Russell-Silver Dwarfism |

Related Topics : | Disabilities | Birth Defects | Dwarfism |

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Languages: | English |

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).

Silver-Russell dwarfism
Visitor Comments This article was judged to be an excellent summary of Silver-Russell Syndrome as of 8/10/2009
... growth disorder occurring in approximately 1/75000 births ... usually referred to as Russel-Silver ... one of 200 types of dwarfism and one of five types of primordial dwarfism ... there are no tests to clearly determine if this is what a person has ... caused by an mUPD (maternal uniparental disomy) on chromosome 7, in 10% of the cases ... Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following ... small for gestational age (SGA) at birth (birth weight less than 2.8kg) ...Feeding problems ... Hypoglycemia ... Excessive sweating ... Triangular shaped face ... small jaw ... pointed chin ... blue tinge to the whites of the eyes ... Head circumference may be of normal size ... Wide and late-closing fontanelle ... Clinodactyly ... Body asymmetry ... Continued poor growth with no "catch up" ... Precocious puberty (occasionally) ... Low muscle tone ... Gastroesophageal reflux disease ... A striking lack of subcutaneous fat ...

Russell-Silver Syndrome
The MAGIC Foundation, May 31, 2009
Visitor Comments [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
What Should I Do If I Think My Small for Gestational Age Child Has Russell-Silver Syndrome? ... Know clues that hypoglycemia is occurring ... Prevent hypoglycemia by ... Why Does My Child Have Russell-Silver syndrome? ... It is not your fault! You could have done nothing to prevent it ... What Can I Expect Regarding My Child's Cognitive Abilities? ... Where can I meet other Russell-Silver syndrome (RSS) families? ... What Treatments are Available for Russell-Silver syndrome?...


Last Updated: 2009/8/11


American Medical Association