Overview
Silver-Russell syndrome (SRS), also known as Russell-Silver syndrome, is a rare genetic condition that affects growth and development. It is one of the most well-known causes of intrauterine growth restriction, meaning babies with this condition are smaller than expected before and after birth. This specific form of Silver-Russell syndrome is caused by a point mutation — a small change in a single spot within the DNA — rather than the more common epigenetic or chromosomal changes seen in other forms of SRS. Children with this condition are typically born small for their gestational age and continue to grow slowly after birth. They often have distinctive facial features, including a triangular face, a prominent forehead, and a small, pointed chin. Body asymmetry, where one side of the body is slightly larger than the other, is also common. Many children experience feeding difficulties, low appetite, and low blood sugar (hypoglycemia) in early life. Treatment focuses on managing symptoms and supporting growth. Growth hormone therapy is a key part of treatment and can significantly improve height outcomes when started early. Nutritional support, monitoring for low blood sugar, and physical therapy for any limb length differences are also important. With proper care, many individuals with Silver-Russell syndrome lead fulfilling lives, though they may remain shorter than average. A team of specialists is usually needed to address the various aspects of this condition.
Key symptoms:
Being born small for gestational age (low birth weight)Poor growth after birth (failure to thrive)Short stature that persists into childhoodTriangular-shaped faceProminent or broad foreheadSmall, pointed chinBody asymmetry (one side of the body larger than the other)Feeding difficulties and poor appetiteLow blood sugar (hypoglycemia) in infancyThin arms and legs with relatively normal-sized headCurved pinky finger (clinodactyly)Delayed bone ageSweating excessivelyDigestive problems including refluxLearning difficulties in some children
Clinical phenotype terms (36)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Silver-Russell syndrome due to a point mutation.
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View all trials with filters →No actively recruiting trials found for Silver-Russell syndrome due to a point mutation at this time.
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Specialists
View all specialists →No specialists are currently listed for Silver-Russell syndrome due to a point mutation.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Silver-Russell syndrome due to a point mutation.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic change (point mutation) does my child have, and how does it affect their condition?,When should growth hormone therapy be started, and what results can we realistically expect?,How should we manage feeding difficulties and prevent low blood sugar episodes at home?,Will my child need any orthopedic treatment for body asymmetry or limb length differences?,What is the chance that future children could also have this condition?,Are there any clinical trials or new treatments being studied for Silver-Russell syndrome?,What developmental or educational support services should we arrange for my child?
Common questions about Silver-Russell syndrome due to a point mutation
What is Silver-Russell syndrome due to a point mutation?
Silver-Russell syndrome (SRS), also known as Russell-Silver syndrome, is a rare genetic condition that affects growth and development. It is one of the most well-known causes of intrauterine growth restriction, meaning babies with this condition are smaller than expected before and after birth. This specific form of Silver-Russell syndrome is caused by a point mutation — a small change in a single spot within the DNA — rather than the more common epigenetic or chromosomal changes seen in other forms of SRS. Children with this condition are typically born small for their gestational age and co
At what age does Silver-Russell syndrome due to a point mutation typically begin?
Typical onset of Silver-Russell syndrome due to a point mutation is neonatal. Age of onset can vary across affected individuals.