Living with Cyprus facial-neuromusculoskeletal syndrome
A rare genetic syndrome present from birth that affects the face, bones, muscles, and nerves.
Understanding Cyprus facial-neuromusculoskeletal syndrome
It is present before or at birth. Features include a distinct face shape, bone differences, and muscle and sensory problems that can be limiting for some people. Intelligence is normal. GARD notes no further descriptions in medical literature since 1992.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these reported features:
- A thickened skin fold from brow to top of the head
- Wide-set eyes (hypertelorism) and low-set ears
- Muscle wasting in the limbs
- Curved spine present from birth (kyphoscoliosis)
- Hip dislocation and stiff joints
- Droopy eyelids (ptosis) and cataracts
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 brain and nervous system specialists, eye disease 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
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 (also called variants) cause this condition. It is inherited in an autosomal dominant way, so a changed copy of the gene from one parent can be enough.
Also known as: cyprus facial neuromusculoskeletal 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 Cyprus facial-neuromusculoskeletal syndrome.
Explore research for Cyprus facial-neuromusculoskeletal syndrome
Explore actively recruiting Cyprus facial-neuromusculoskeletal syndrome studies with HealthSpark.
Find actively recruiting studies for Cyprus facial-neuromusculoskeletal 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Cyprus facial-neuromusculoskeletal syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Cyprus facial-neuromusculoskeletal syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Cyprus facial-neuromusculoskeletal syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.