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Diseases

Genetic and Rare Diseases Information Center (GARD)

Russell-Silver syndrome


Other Names for this Disease
  • Silver-Russell syndrome
  • Silver-Russell dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Russell-Silver syndrome?

Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include:
  • intrauterine growth restriction
  • low birth weight
  • poor growth
  • short stature
  • curving of the pinky finger (clinodactyly)
  • characteristic facial features (wide forehead; small, triangular face; and small, narrow chin)
  • arms and legs of different lengths
  • cafe-au-lait spots (birth marks)
  • delayed bone age
  • gastroesophageal reflux disease
  • kidney problems
  • "stubby" fingers and toes
  • developmental delay
  • learning disabilities[1][2]
Last updated: 3/3/2016

The Human Phenotype Ontology provides the following list of signs and symptoms for Russell-Silver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Blue sclerae 90%
Clinodactyly of the 5th finger 90%
Decreased body weight 90%
Downturned corners of mouth 90%
Intrauterine growth retardation 90%
Short stature 90%
Triangular face 90%
Asymmetric growth 50%
Delayed skeletal maturation 50%
Hypoglycemia 50%
Thin vermilion border 50%
Abnormality of the cardiovascular system 7.5%
Abnormality of the urinary system 7.5%
Cognitive impairment 7.5%
Precocious puberty 7.5%
Abnormality of the foot -
Abnormality of the ureter -
Cafe-au-lait spot -
Congenital posterior urethral valve -
Craniofacial disproportion -
Craniopharyngioma -
Delayed cranial suture closure -
Fasting hypoglycemia -
Frontal bossing -
Growth hormone deficiency -
Hepatocellular carcinoma -
Hypospadias -
Nephroblastoma (Wilms tumor) -
Short distal phalanx of the 5th finger -
Short middle phalanx of the 5th finger -
Small for gestational age -
Sporadic -
Syndactyly -
Testicular seminoma -

Last updated: 7/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Russell-Silver syndrome. MedlinePlus. March 2, 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001209.htm.
  2. Saal HM. Russell-Silver Syndrome. GeneReviews. June 2 2011; http://www.ncbi.nlm.nih.gov/books/NBK1324/.


Other Names for this Disease
  • Silver-Russell syndrome
  • Silver-Russell dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.