Living with Orofaciodigital syndrome V
A rare genetic condition with a central cleft of the upper lip, extra fingers and toes, and an extra band of tissue in the mouth.
Understanding Orofaciodigital syndrome V
The extra fingers and toes are on the little-finger side of the hand and foot (postaxial polydactyly). Mouth features include a duplicated frenulum (a band of tissue). GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Central cleft in the upper lip
- Extra tissue band (frenulum) in the mouth
- Split tongue
- Extra little finger or toe
- Widely spaced eyes
- Intellectual disability
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, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in DDX59 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); Brain and nervous system specialists (neurologists); 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
Changes in the DDX59 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: ofd5; ofds v; oral-facial-digital syndrome type 5; oral-facial-digital syndrome, type v; oro-facial digital syndrome type 5; orofaciodigital syndrome thurston type
Patient organizations
- American Cleft Palate Craniofacial AssociationOrofaciodigital syndrome V · United States
- FACES: The National Craniofacial AssociationOrofaciodigital syndrome V · 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 V.
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