Living with Proximal symphalangism
A rare genetic condition in which finger and toe joints are fused, often with stiff joints and hearing loss.
Understanding Proximal symphalangism
Fingers are usually straight and can't make a fist. Other joints, such as the elbows, ankles, and wrists, can also be stiff. Hearing loss from fused bones in the middle ear is also common. GARD lists onset in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fused finger and toe joints
- Straight fingers that can't make a fist
- Stiff elbows, wrists, and ankles
- Hearing loss
- Short fingers or toes (brachydactyly)
- Fused wrist or ankle 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 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
It is caused by changes in the NOG gene or the GDF5 gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: cushing symphalangism; cushing's symphalangism; hereditary absence of the proximal interphalangeal joints; proximal interphalangeal joint symphalangism cushing type; proximal symphalangism (disease); symphalangism cushing type
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 Proximal symphalangism.
Explore research for Proximal symphalangism
Explore actively recruiting Proximal symphalangism studies with HealthSpark.
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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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