Living with Orofaciodigital syndrome XI
An extremely rare condition with face, hand and spine differences, severe intellectual disability, deafness, and heart defects.
Understanding Orofaciodigital syndrome XI
Features include differences in the face, such as narrow eye openings, a bulbous nose tip, and a broad nose bridge, as well as extra fingers or toes on the little-finger side and fused spine bones. It also involves severe intellectual disability, deafness, and heart defects present from birth. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Bulbous nose and wide nose bridge
- Extra finger or toe on the little-finger side
- Intellectual disability
- Seizures
- Curved spine (kyphoscoliosis)
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.
- 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); 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
GARD says changes in genes cause this condition. It describes it as sporadic, meaning it happens by chance in a family.
Also known as: gabrielli syndrome; ofd syndrome 11; ofd11; ofds 11; ofds xi; oral-facial-digital syndrome gabrielli type
Patient organizations
- American Cleft Palate Craniofacial AssociationOrofaciodigital syndrome XI · United States
- FACES: The National Craniofacial AssociationOrofaciodigital syndrome XI · 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 XI.
Explore research for Orofaciodigital syndrome XI
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