Living with Orofaciodigital syndrome X
An extremely rare condition with face, mouth, and limb differences, described in one infant girl.
Understanding Orofaciodigital syndrome X
Features include widely spaced inner eye corners, a flat nose bridge, a small lower jaw, cleft palate, and fewer or extra fingers. Forearm bones are very short, one lower leg bone is missing, and ankle bones are fused. It was described in one 10-month-old girl, and no new cases have been described since 1993.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Widely spaced inner eye corners
- Flat nose bridge and small lower jaw
- Cleft palate
- Fewer or extra fingers
- Very short forearm bone (radius)
- Missing lower leg bone (fibula)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association
- 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 doesn't describe a specific cause. It lists autosomal dominant inheritance, where one changed copy of a gene can be enough.
Also known as: figuera syndrome; ofd10; ofds x; oral-facial-digital syndrome type 10; oral-facial-digital syndrome with fibular aplasia; oral-facial-digital syndrome, type x
Patient organizations
- American Cleft Palate Craniofacial AssociationOrofaciodigital syndrome X · United States
- Children's Craniofacial AssociationOrofaciodigital syndrome X · United States
- FACES: The National Craniofacial AssociationOrofaciodigital syndrome X · United States
You are more than your diagnosis
Perspectives from people navigating life with Orofaciodigital syndrome X.
Explore research for Orofaciodigital syndrome X
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