Living with Orofaciodigital syndrome 18
A rare genetic condition with mouth, face, and finger or toe differences and short stature.
Understanding Orofaciodigital syndrome 18
Features include extra tissue bands in the mouth (frenula), missing front teeth, a square-shaped face with a small forehead, upslanting eyes, and cleft lip. People may have short or extra fingers and toes and short stature. Some have extra neck ribs and differences in the spine bones. GARD lists onset as newborn.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Extra tissue bands (frenula) in the mouth
- Missing front teeth
- Square-shaped face and cleft lip
- Short fingers and toes
- Extra fingers or toes (polydactyly)
- Short stature
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.
- 3Consider genetic testing
Changes in IFT57 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 FACES: The National Craniofacial Association and other patient organizations
- 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
Changes in the IFT57 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ofd18; ofd18 - oral-facial-digital syndrome type 18; ofds 18; ofds xviii; oral-facial-digital syndrome type 18; oral-facial-digital syndrome with short stature and brachymesophalangia
Patient organizations
- FACES: The National Craniofacial AssociationOrofaciodigital syndrome 18 · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Orofaciodigital syndrome 18.
Explore research for Orofaciodigital syndrome 18
Explore actively recruiting Orofaciodigital syndrome 18 studies with HealthSpark.
Find actively recruiting studies for Orofaciodigital syndrome 18 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 Orofaciodigital syndrome 18 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 Orofaciodigital syndrome 18
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 Orofaciodigital syndrome 18 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.