Living with Craniorhiny
A rare syndrome with early skull closure, a wide nose, and cysts on the upper lip, present from birth.
Understanding Craniorhiny
It features a pointed skull shape with early closure of skull bones (craniosynostosis), a wide nose with upturned nostrils, hair growth at the base of the nose, blocked tear ducts, and matching cysts on both sides of the upper lip. Wide-set eyes may also occur.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Early closure of skull bones (craniosynostosis)
- Wide nose with upturned nostrils
- Hair at the base of the nose
- Blocked tear ducts
- Cysts on the upper lip
- Wide-set eyes
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 doesn't name a gene.
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 Craniorhiny.
Explore research for Craniorhiny
Explore actively recruiting Craniorhiny studies with HealthSpark.
Find actively recruiting studies for Craniorhiny 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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