Living with Orofaciodigital syndrome type 6
A very rare form of Joubert syndrome with brain features plus mouth and face differences and often extra fingers or toes.
Understanding Orofaciodigital syndrome type 6
It combines the brain and nervous system features of Joubert syndrome with mouth and face differences and often extra fingers or toes (polydactyly). 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:
- Trouble coordinating movement (ataxia)
- Low muscle tone
- Delayed development overall
- Cleft palate and lobed tongue
- Feeding difficulties in infancy
- Slow growth
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 eye disease specialists.
- 3Consider genetic testing
Changes in CPLANE1 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
National Ataxia Foundation 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); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: National Ataxia Foundation, 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 Joubert Syndrome & Related Disorders Foundation 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 CPLANE1 gene cause this condition. GARD lists autosomal recessive and X-linked inheritance.
Also known as: central polydactyly cleft lip/palate or lingual lump and psychomotor retardation; joubert syndrome with oral-facial-digital syndrome; joubert syndrome with oro-facial-digital syndrome; joubert syndrome with orofacialdigital anomalies; joubert syndrome with orofaciodigital defect; ofd6
Patient organizations
- Joubert Syndrome & Related Disorders FoundationOrofaciodigital syndrome type 6 · United States
- National Ataxia FoundationAtaxia · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Orofaciodigital syndrome type 6.
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