Overview
Emery-Nelson syndrome is an extremely rare genetic condition that primarily affects males and is characterized by a combination of intellectual disability, short stature, and distinctive physical features. The syndrome was first described in the medical literature and has been reported in only a very small number of families worldwide. Affected individuals typically show mild to moderate intellectual disability, which may become apparent during early childhood when developmental milestones such as speech and learning are delayed. Physical features can include a short neck, broad chest, and certain facial characteristics. Some individuals may also experience joint limitations or mild skeletal abnormalities. Because this condition is so rare, the full range of symptoms and their severity can vary between affected individuals. There is currently no cure for Emery-Nelson syndrome. Treatment focuses on managing individual symptoms and supporting development through therapies such as speech therapy, occupational therapy, and special education services. Regular follow-up with a team of specialists is important to monitor growth, development, and any emerging health concerns over time.
Also known as:
Key symptoms:
Intellectual disabilityShort statureDelayed speech developmentDelayed motor milestonesShort neckBroad chestJoint stiffness or limited joint movementDistinctive facial featuresLearning difficultiesMild skeletal abnormalities
Clinical phenotype terms (12)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Emery-Nelson syndrome.
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Specialists
View all specialists →No specialists are currently listed for Emery-Nelson syndrome.
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 Emery-Nelson 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 specific developmental therapies would benefit my child the most right now?,Is genetic testing available that could confirm the diagnosis or identify the specific gene involved?,What should I watch for as my child grows that might need medical attention?,Are there any clinical studies or research programs we could participate in?,What educational supports and accommodations should we request at school?,Should female family members be tested to see if they are carriers?,How often should we schedule follow-up visits with specialists?
Common questions about Emery-Nelson syndrome
What is Emery-Nelson syndrome?
Emery-Nelson syndrome is an extremely rare genetic condition that primarily affects males and is characterized by a combination of intellectual disability, short stature, and distinctive physical features. The syndrome was first described in the medical literature and has been reported in only a very small number of families worldwide. Affected individuals typically show mild to moderate intellectual disability, which may become apparent during early childhood when developmental milestones such as speech and learning are delayed. Physical features can include a short neck, broad chest, and cer
How is Emery-Nelson syndrome inherited?
Emery-Nelson syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Emery-Nelson syndrome typically begin?
Typical onset of Emery-Nelson syndrome is childhood. Age of onset can vary across affected individuals.