The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Clinodactyly of the 5th finger||90%|
|Decreased body weight||90%|
|Downturned corners of mouth||90%|
|Intrauterine growth retardation||90%|
|Delayed skeletal maturation||50%|
|Thin vermilion border||50%|
|Abnormality of the cardiovascular system||7.5%|
|Abnormality of the urinary system||7.5%|
|Abnormality of the foot||-|
|Abnormality of the ureter||-|
|Congenital posterior urethral valve||-|
|Delayed cranial suture closure||-|
|Growth hormone deficiency||-|
|Short distal phalanx of the 5th finger||-|
|Short middle phalanx of the 5th finger||-|
|Small for gestational age||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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.
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I have Russell-Silver syndrome (RSS) and my boyfriend has cystic fibrosis. I recently found out that both are caused by mutations of chromosome 7. Does that mean that I could be a carrier of cystic fibrosis (CF)? 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