Living with Multiple synostosis syndrome
A rare bone condition in which joints in the fingers, toes, wrists, and ankles fuse, starting in childhood.
Understanding Multiple synostosis syndrome
People have fused joints in the fingers or toes (proximal symphalangism). The wrist, ankle, elbow, and neck joints may also be fused. GARD lists onset in childhood. It is autosomal dominant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joint stiffness
- Short fingers or toes (brachydactyly)
- Broad thumb
- Short palm
- Hearing loss (conductive)
- Cone-shaped ends of bones
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, ear, nose, and throat 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); Ear, nose, and throat specialists (otolaryngologists); 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 says changes in genes cause this condition. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: deafness-hermann type symphalangism syndrome; facio-audio-symphalangism; hearing loss-hermann type symphalangism syndrome; multiple synostoses syndrome; symphalangism syndrome; wl 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 Multiple synostosis syndrome.
Explore research for Multiple synostosis syndrome
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- Recruiting studies from ClinicalTrials.gov
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- 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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