Living with Multiple synostoses syndrome 2
A rare inherited condition in which joints in the fingers, wrists, ankles, and neck slowly fuse, with hearing loss.
Understanding Multiple synostoses syndrome 2
Joints in the fingers, wrists, ankles, and neck bones (cervical spine) fuse over time. People also have distinct facial features, including a broad, tube-shaped nose, and hearing loss that slowly gets worse (conductive). It is autosomal dominant.
Signs & symptoms
GARD doesn't list common symptoms for this condition yet. It lists these as less common features:
- Club feet
- Fused wrist bones (carpal synostosis)
- Fused ankle bones
- Fused finger 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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 cause for this condition yet. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: gdf5 multiple synostoses syndrome; multiple synostoses syndrome caused by mutation in gdf5; multiple synostoses syndrome type 2; syns2
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 synostoses syndrome 2.
Explore research for Multiple synostoses syndrome 2
Explore actively recruiting Multiple synostoses syndrome 2 studies with HealthSpark.
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- 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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