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Russell-Silver syndrome


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Other Names:
Silver-Russell syndrome; Silver-Russell dwarfism; Russell Silver syndrome; Silver-Russell syndrome; Silver-Russell dwarfism; Russell Silver syndrome; Silver Russell syndrome See More
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Congenital and Genetic Diseases
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Summary Summary


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Russell-Silver syndrome (RSS) is a rare condition associated with poor growth both before and after birth.[1] Signs and symptoms vary and may include low birth weight, short stature, characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties. Other features may include poor appetite, clinodactyly (curved finger), digestive system abnormalities, delayed development, and/or learning disabilities.[1][2] The genetic causes of RSS are complex and relate to certain genes that control growth. Sometimes, the genetic cause cannot be identified. Most cases are not inherited from a parent and occur sporadically. In rare cases, RSS may be inherited in an autosomal dominant or autosomal recessive manner.[2] Because RSS can lead to a wide variety of physical abnormalities and health problems, treatment ideally should be managed by a team of specialists with knowledge of RSS. Early intervention is recommended to help children with RSS reach their full potential.[1]
Last updated: 6/29/2017

Symptoms Symptoms


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Features of Russell-Silver syndrome (RSS) can vary. Some people with RSS have many features, while others have very few features.[3] Signs and symptoms may include:[1][2][4]
  • Intrauterine growth restriction (poor growth before birth)
  • Low birth weight
  • Head that appears large in relation to body size (relative macrocephaly)
  • Poor appetite and feeding difficulties
  • Hypoglycemia
  • Poor growth after birth, leading to short stature
  • Scoliosis
  • Curving of the pinky finger (clinodactyly)
  • Characteristic facial features (prominent forehead; small, triangular-shaped face; a small jaw; a narrow chin; and down-turned corners of the mouth)
  • Arms and legs of different lengths (body asymmetry)
  • Delayed bone age
  • Gastroesophageal reflux disease or other digestive problems
  • Kidney problems
  • Developmental delay and/or learning disabilities
  • Psychosocial challenges
Last updated: 6/29/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 67 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Cachexia
Wasting syndrome
0004326
Feeding difficulties
Feeding problems
Poor feeding
[ more ]
0011968
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Postnatal growth retardation
Growth delay as children
0008897
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Relative macrocephaly
Relatively large head
0004482
Short stature
Decreased body height
Small stature
[ more ]
0004322
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
0000325
30%-79% of people have these symptoms
Abnormality of the calcaneus
Abnormal heel bone
0008364
Arthralgia
Joint pain
0002829
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Constipation 0002019
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Decreased muscle mass 0003199
Decreased testicular size
Small testes
Small testis
[ more ]
0008734
Delayed cranial suture closure 0000270
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
0000678
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ]
0002714
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ]
0001531
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
High pitched voice 0001620
Insulin resistance
Body fails to respond to insulin
0000855
Lower limb asymmetry
Left and right leg differ in length or width
0100559
Low-set, posteriorly rotated ears 0000368
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Motor delay 0001270
Premature adrenarche 0012412
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ]
0001622
Recurrent hypoglycemia
Recurrent low blood sugar levels
0001988
Shoulder dimple 0010782
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ]
0002360
Thin vermilion border
Decreased volume of lip
Thin lips
[ more ]
0000233
Upper limb asymmetry
Unequal size of arms
0100560
5%-29% of people have these symptoms
Abnormal vagina morphology 0000142
Abnormality of the cardiovascular system
Cardiovascular abnormality
0001626
Autistic behavior 0000729
Cafe-au-lait spot 0000957
Generalized neonatal hypotonia
Generalized low muscle tone in neonate
0008935
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
0000975
Hypospadias 0000047
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Obesity
Having too much body fat
0001513
Postnatal microcephaly 0005484
Precocious puberty
Early onset of puberty
Early puberty
[ more ]
0000826
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
0001852
Scoliosis 0002650
Percent of people who have these symptoms is not available through HPO
Abnormal foot morphology
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ]
0001760
Abnormality of the ureter 0000069
Autosomal dominant inheritance 0000006
Congenital posterior urethral valve 0010957
Craniofacial disproportion 0005461
Craniopharyngioma 0030062
Fasting hypoglycemia
Low blood sugar when fasting
0003162
Frontal bossing 0002007
Global developmental delay 0001263
Growth hormone deficiency 0000824
Hepatocellular carcinoma 0001402
Nephroblastoma 0002667
Short distal phalanx of the 5th finger
Short outermost little finger bone
Short outermost pinkie finger bone
Short outermost pinky finger bone
[ more ]
0004227
Short middle phalanx of the 5th finger
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ]
0004220
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ]
0001518
Sporadic
No previous family history
0003745
Syndactyly
Webbed fingers or toes
0001159
Testicular seminoma 0100617
Urethral valve 0010481
Showing of 67 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth.[2] Two genetic causes have been found to result in about 60% of the cases:[5][4]
  • Abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is "turned on," or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS.
  • Maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father.
Other chromosome abnormalities have also been described as causing RSS, or RSS-like syndromes.[5]

In many people with RSS, the cause of the condition is unknown. Researchers are working to identify additional genetic changes that cause RSS.[2]
Last updated: 6/29/2017

Inheritance Inheritance


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Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), occurring in people with no family history of RSS.[2]

Rarely, RSS may be inherited. In some families, it appears to be inherited in an autosomal dominant manner.[4] This means that having a genetic change in only one copy of the responsible gene in each cell is enough to cause the disorder. In other families, RSS is inherited in an autosomal recessive manner.[4] This means that to have RSS, a person must have a change in both copies of the responsible gene in each cell. Affected people inherit one copy from each parent, who is referred to as a carrier. Carriers of autosomal recessive conditions typically do not have any signs or symptoms (they are unaffected).
Last updated: 6/29/2017

Diagnosis Diagnosis


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Russell-Silver syndrome (RSS) is currently a clinical diagnosis, based on a combination of characteristic features.[1] Because the condition varies widely in severity and many of its features are nonspecific, making a diagnosis can be difficult.[1][5] Consensus guidelines including a summary of recommendations for clinical diagnosis have recently been published and can be viewed here.

Molecular genetic testing can confirm the diagnosis in around 60% of patients, and may be useful in guiding management. However, genetic testing results are negative ("normal") in a notable proportion of patients with the characteristic features of RSS. Therefore, a negative genetic test result does not exclude the diagnosis of RSS.[1]
Last updated: 6/29/2017

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment


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The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Wakeling EL, Brioude F, Lokulo-Sodipe O, et. al. Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017 Feb;13(2):105-124.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Prognosis Prognosis


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The long-term outlook associated with Russell-Silver syndrome is generally good,[6] but may depend on how severely affected a person is and whether complications arise. People with RSS may face challenges from birth to adulthood. While some people with RSS believe that they are not at risk for associated health issues once they reach their adult height, recent research has shown there may be increased risks for certain health issues in adulthood. These possible risks include:[3]
  • Metabolic syndrome
  • Uterine and vaginal dysgenesis (in females with 11p15-related RSS)
  • Gonadal hypofunction or testicular cancer in males
  • Low muscle mass or low bone mineral density
  • Myoclonus dystonia (in people with chromosome 7-related RSS)
Last updated: 6/29/2017

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes intrauterine growth retardation due to impaired placental function, structural or mosaic chromosomal abnormalities, neonatal progeria (Wiedemann-Rautenstrauch syndrome), 3M syndrome and Mulibrey dwarfism (see these terms). Genetic counselling depends on the molecular mechanism involved.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Russell-Silver syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Little People of America, Inc.
    617 Broadway #518
    Sonoma, CA 95476
    Toll-free: 1-888-572-2001
    Telephone: +1-714-368-3689
    Fax: +1-707-721-1896
    E-mail: info@lpaonline.org
    Website: https://www.lpaonline.org/
  • Russell Silver Syndrome Patient Support Division of the MAGIC Foundation
    E-mail: rss@magicfoundation.org
    Website: https://www.magicfoundation.org/
  • Silver Russell Syndrome Global Alliance
    E-mail: http://silverrussellsyndrome.org/contact-us/
    Website: http://silverrussellsyndrome.org/
  • The MAGIC Foundation
    4200 Cantera Dr. #106
    Warrenville, IL 60555
    Toll-free: 800-362-4423
    Telephone: 630-836-8200
    Fax: 630-836-8181
    E-mail: contactus@magicfoundation.org
    Website: https://www.magicfoundation.org/

Social Networking Websites

  • Visit the following Facebook groups related to Russell-Silver syndrome:
    A Day in the Life - Russell Silver Syndrome & SGA Families - MAGIC Foundation
    Russell-Silver Syndrome Support
    Russell Silver Syndrome RSS/SGA-Information & Support
    SGA/Small for Gestational Age Parent Support-The MAGIC Foundation

Organizations Providing General Support

  • Child Growth Foundation
    United Kingdom
    Telephone: 020 8995 0257
    E-mail: info@childgrowthfoundation.org
    Website: https://childgrowthfoundation.org/
  • Human Growth Foundation
    997 Glen Cove Avenue, Suite 5
    Glen Head, NY 11545
    Toll-free: 1-800-451-6434
    Fax: 516-671-4055
    E-mail: hgf1@hgfound.org
    Website: http://www.hgfound.org/
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Russell-Silver syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The MAGIC Foundation has an information page on Russell-Silver syndrome. Please click on the link to access this resource.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Russell-Silver syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • Wakeling EL, Brioude F, Lokulo-Sodipe O, et. al. Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017 Feb;13(2):105-124.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Could you advise whether there are other rare syndromes that have similar symptoms to Russell-Silver syndrome? I am asking on behalf of a mother whose child has had various tests and extensive genetic screening and is as yet undiagnosed. She has been tube fed since birth and is now nearly three years old. RSS has been suggested as a possible diagnosis. See answer

  • I have a niece diagnosed at approximately age 3 with RSS. She is 8 weeks pregnant. We're wondering what are the chances her baby will also have it? Possible? Probable? Not likely? Would appreciate your thoughts. See answer

  • I am a speech-language pathologist who has a student that was recently diagnosed with RSS. I have attempted to research the impacts of RSS on speech and language development, but have only found very generic information such as these children have small jaws and mouth and often have speech and learning delays. Do you have any specific information regarding the types of speech disorders that these children experience? Any information would be helpful since I am unfamiliar with this syndrome. See answer

  • What is the average lifespan for a male with Russell-Silver syndrome? See answer

  • Are there any other diseases with the same symptoms as Duchenne muscular dystrophy? Can Silver-Russell syndrome mimic muscular dystrophy? See answer

  • How can I meet other families with children with Russell-Silver syndrome? My granddaughter was recently diagnosed with this condition. I want to know how I can best support and help her as she grows. See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. February, 2017; 13(2):105-124. https://www.nature.com/nrendo/journal/v13/n2/full/nrendo.2016.138.html.
  2. Russell-Silver syndrome. Genetics Home Reference. September 2016; http://ghr.nlm.nih.gov/condition=russellsilversyndrome.
  3. Russell Silver Syndrome. The MAGIC Foundation. 2018; https://www.magicfoundation.org/Growth-Disorders/Russell-Silver-Syndrome/.
  4. Howard M Saal. Russell-Silver Syndrome. GeneReviews. June 2, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1324/.
  5. Netchine I and Salem J. Russell Silver syndrome. National Organization for Rare Disorders. 2017; http://rarediseases.org/rare-diseases/russell-silver-syndrome/.
  6. Toutain A. Orphanet. September, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813.
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