Living with Craniofacial conodysplasia
A rare condition with differences in the skull and face, cone-shaped growth areas in the hands and feet, and brain-related movement problems.
Understanding Craniofacial conodysplasia
The syndrome appeared to be passed down as a dominant trait. Features can include pressure on the spinal cord and too much fluid in the brain (hydrocephalus).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Facial differences
- Cone-shaped finger bones
- Skull and facial bone differences (craniofacial dysostosis)
- Pressure on the spinal cord
- Extra fluid in the brain (hydrocephalus)
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
GARD says changes in genes cause this condition. It appears to be autosomal dominant, meaning one changed copy of the gene can be enough. GARD doesn't name a gene.
Also known as: craniofacial conodysplasia 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 Craniofacial conodysplasia.
Explore research for Craniofacial conodysplasia
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Find actively recruiting studies for Craniofacial conodysplasia with HealthSpark. Share your city to explore research near you.
- 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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