Living with Orofaciodigital syndrome IX
A rare genetic condition with mouth, face, hand and foot differences, mild intellectual disability, and retina changes.
Understanding Orofaciodigital syndrome IX
Features include a high-arched palate, a split tongue, extra lower canine teeth, and tongue growths. Face features include widely spaced eyes, crossed eyes, and a broad or split nose tip. Other features are short stature, fused or extra fingers and toes, and mild intellectual disability. Eye changes can include a notch in the optic disc and retinal differences with partial detachment. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- High-arched palate and split tongue
- Widely spaced eyes and crossed eyes (strabismus)
- Broad or split nose tip
- Short stature
- Extra or joined fingers and toes
- Retina differences
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TBC1D32 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
American Cleft Palate Craniofacial Association and 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, 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 American Cleft Palate 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 TBC1D32 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: ofd9; ofds ix; oral-facial-digital syndrome type 9; oral-facial-digital syndrome with retinal abnormalities; oral-facial-digital syndrome, type ix; oro-facial digital syndrome type 9
Patient organizations
- American Cleft Palate Craniofacial AssociationOrofaciodigital syndrome IX · United States
- FACES: The National Craniofacial AssociationOrofaciodigital syndrome IX · 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 IX.
Explore research for Orofaciodigital syndrome IX
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