Overview
Lamb-Shaffer syndrome is a rare genetic condition caused by changes in a gene called SOX5. It was first described in 2012 and is named after the researchers who identified it. The condition mainly affects brain development, which leads to a range of challenges with learning, communication, and behavior. People with Lamb-Shaffer syndrome often have intellectual disability, meaning they may learn more slowly than their peers and need extra support in school and daily life. Speech and language development is usually delayed, and some individuals may have limited spoken language even as adults. Many people with this condition also have features that affect how they look, such as a broad forehead, widely spaced eyes, or low-set ears, though these features can be subtle. Beyond learning and communication, some individuals experience behavioral challenges such as attention difficulties, anxiety, or features similar to autism spectrum disorder. Seizures occur in a portion of affected individuals. Problems with muscle tone, particularly low muscle tone (called hypotonia) in infancy, are also common and can affect feeding and motor development early in life. Some people may have mild differences in brain structure that can be seen on an MRI scan. There is currently no cure for Lamb-Shaffer syndrome. Treatment focuses on supporting each person's individual needs through speech therapy, occupational therapy, physical therapy, special education, and behavioral support. With the right support, many individuals can make meaningful progress. The condition is also sometimes referred to as SOX5 haploinsufficiency.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentLow muscle tone (hypotonia) in infancyBehavioral challenges such as attention problems or anxietyFeatures of autism spectrum disorderSeizures or epilepsyBroad foreheadWidely spaced eyesLow-set or unusually shaped earsDelayed walking or motor milestonesFeeding difficulties in infancyMild differences in brain structure seen on brain scans
Clinical phenotype terms (34)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Lamb-Shaffer syndrome.
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Specialists
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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 Lamb-Shaffer syndrome.
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 type of genetic change does my child have in the SOX5 gene, and what does that mean for their outlook?,Should other family members be tested for this genetic change?,What therapies should we start right away, and how often should my child receive them?,Does my child need a brain MRI or EEG, and what would we be looking for?,What signs of seizures should I watch for, and what should I do if one happens?,Are there any clinical trials or research studies we could participate in?,What support services or patient organizations exist for families affected by Lamb-Shaffer syndrome?
Common questions about Lamb-Shaffer syndrome
What is Lamb-Shaffer syndrome?
Lamb-Shaffer syndrome is a rare genetic condition caused by changes in a gene called SOX5. It was first described in 2012 and is named after the researchers who identified it. The condition mainly affects brain development, which leads to a range of challenges with learning, communication, and behavior. People with Lamb-Shaffer syndrome often have intellectual disability, meaning they may learn more slowly than their peers and need extra support in school and daily life. Speech and language development is usually delayed, and some individuals may have limited spoken language even as adults. Ma
How is Lamb-Shaffer syndrome inherited?
Lamb-Shaffer syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lamb-Shaffer syndrome typically begin?
Typical onset of Lamb-Shaffer syndrome is infantile. Age of onset can vary across affected individuals.