Overview
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome is an extremely rare genetic condition that combines several features affecting the spine, muscles, and face. The hallmark of this syndrome is the Klippel-Feil anomaly, which means that two or more bones in the neck (cervical vertebrae) are fused together from birth. This fusion can limit neck movement and may cause a short neck appearance. In addition to the spinal changes, people with this syndrome experience myopathy, which means their muscles are weaker than normal. This muscle weakness can affect various parts of the body and may impact movement and daily activities. The syndrome also includes distinctive facial features (facial dysmorphism), which may include unusual spacing of the eyes, a broad or flat nose, or other subtle differences in facial structure. Because this condition is so rare, the treatment approach is mainly supportive and symptom-based. There is no cure, but physical therapy, orthopedic care, and monitoring of muscle and spine health can help manage symptoms and improve quality of life. Early diagnosis and a team of specialists working together are important for the best possible outcomes.
Key symptoms:
Fused neck vertebrae (bones in the neck joined together)Short neckLimited neck movementMuscle weakness (myopathy)Unusual facial featuresLow muscle tone (floppiness)Delayed motor milestonesDifficulty with movement or coordinationPossible scoliosis or other spine curvaturePossible hearing problemsPossible kidney abnormalitiesLow hairline at the back of the head
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Klippel-Feil anomaly-myopathy-facial dysmorphism 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 Klippel-Feil anomaly-myopathy-facial dysmorphism 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.How severe is the spinal fusion, and what precautions should we take to protect the neck?,What type and frequency of physical therapy is recommended?,Are there any organs besides the spine and muscles that we should monitor?,Is genetic testing available to confirm the diagnosis, and should family members be tested?,What activities or sports should be avoided to reduce the risk of spinal cord injury?,How will this condition change over time, and what signs of worsening should we watch for?,Are there any clinical trials or research studies we could participate in?
Common questions about Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
What is Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome?
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome is an extremely rare genetic condition that combines several features affecting the spine, muscles, and face. The hallmark of this syndrome is the Klippel-Feil anomaly, which means that two or more bones in the neck (cervical vertebrae) are fused together from birth. This fusion can limit neck movement and may cause a short neck appearance. In addition to the spinal changes, people with this syndrome experience myopathy, which means their muscles are weaker than normal. This muscle weakness can affect various parts of the body and may i
How is Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome inherited?
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome typically begin?
Typical onset of Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.