Spondylocarpotarsal Synostosis Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Spondylocarpotarsal Synostosis Syndrome?
A primary care doctor usually coordinates care, and most patients also see an orthopedic specialist; some see a medical geneticist. A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can handle routine checkups but will refer patients to specialists for spine problems or surgery decisions.
What it is
Spondylocarpotarsal synostosis syndrome is a rare condition a person is born with. "Spondylo" refers to the spine, "carpal" to the wrist bones, "tarsal" to the foot bones, and "synostosis" means bones that are normally separate grow together. Some of these bones fuse before birth, most often in the spine, wrists, and feet, which can affect posture, height, and movement.
Symptoms
Symptoms vary from person to person and may include:
- Scoliosis (a sideways spine curve) or kyphosis (a forward rounding).
- A short trunk or shorter height.
- Stiffness in the back, wrists, or feet.
- Fused or differently shaped bones in the hands or feet.
- Clubfoot in some babies.
- Differences in the face or roof of the mouth.
Some people also have hearing problems or, less often, heart differences.
Causes and who gets it
This syndrome is caused by a mutation in a gene named FLNB. When the gene does not work correctly, some bones may fuse when they should stay separate. It is passed down in an autosomal recessive pattern: a child must receive a changed copy from both parents, who usually have no symptoms. It affects boys and girls.
How doctors diagnose it
Doctors start with a physical exam and family history. X-rays can reveal fused bones, and a genetic test using a blood or saliva sample can confirm the diagnosis and help families learn about the chance of it happening again.
Treatment
There is no cure, but care can ease symptoms and help people stay active. A curved spine may be watched, braced, or corrected with surgery. Fused foot bones may be helped with special shoes, braces, or surgery. Physical therapy can improve strength and movement, and hearing problems can be treated by an ear specialist.
When to see a doctor
Talk to a doctor if a child has a curved spine, unusual stiffness, or bones that seem fused. Babies born with a clubfoot should be seen early. Any new numbness, weakness, or trouble walking needs prompt medical attention.
Common questions
Does spondylocarpotarsal synostosis syndrome shorten life?
Most people with this condition have a normal lifespan. Care focuses on comfort, movement, and treating problems like a curved spine as they come up.
Will my child need surgery?
Some people never need surgery, while others do, especially if the spine curve gets worse. It depends on how severe the bone changes are. Doctors decide based on regular exams and imaging.
Can this condition be prevented?
No. It is caused by a gene change that happens before birth. Genetic testing and counseling can help families understand the chance of it occurring in future children.
Can adults be diagnosed with this syndrome?
Yes. Some people learn they have it as adults. This often happens after imaging done for back pain or stiffness shows fused bones.
Sources
- NIH Genetic and Rare Diseases Information Center - Spondylocarpotarsal synostosis syndrome
- MedlinePlus Genetics - Spondylocarpotarsal synostosis syndrome
- MedlinePlus - Scoliosis
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
