Living with Sillence syndrome
A rare genetic condition with short fingers and toes, high foot arches and scoliosis, with typical height.
Understanding Sillence syndrome
People have short fingers and toes (brachydactyly), fused finger joints, high-arched feet, scoliosis, and typical height. GARD notes there have been no further descriptions in the medical literature since 1978. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short fingers and toes
- Short or missing middle finger bones
- High-arched feet
- Front of foot turns inward
- Scoliosis
- Flat hip socket roof
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: brachydactyly and distal symphalangism syndrome; brachydactyly-distal symphalangism syndrome; brachydactyly-symphalangism syndrome
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 Sillence syndrome.
Explore research for Sillence syndrome
Explore actively recruiting Sillence syndrome studies with HealthSpark.
Find actively recruiting studies for Sillence syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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