Living with Spondylocarpotarsal synostosis syndrome
A genetic condition that affects how bones grow, especially in the spine, wrists, and ankles.
Understanding Spondylocarpotarsal synostosis syndrome
Babies are born close to normal length, but the torso grows slowly, so height ends up shorter over time. Bones in the spine, wrists, and ankles can be misshapen or joined together (fused). Some people also have hearing loss, a cleft palate, or very flexible joints. Intelligence is generally not affected, though mild developmental delay has been reported in some people. Signs may show in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short torso
- Spine bones that are misshapen or fused
- Curved spine (scoliosis)
- Fused wrist and ankle bones
- Feet that turn inward and up (clubfeet)
- Hearing loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in FLNB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FLNB gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital scoliosis with unilateral unsegmented bar; congenital synspondylism; scoliosis, congenital with unilateral unsegmented bar; sct; spondylocarpotarsal syndrome; spondylocarpotarsal synostosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondylocarpotarsal synostosis syndrome.
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