Living with Orofacial-digital syndrome IV
A rare inherited condition affecting the mouth, face, and fingers and toes, with severe clubfoot and shortened lower legs.
Understanding Orofacial-digital syndrome IV
Features vary but often include benign tongue growths (hamartomas), extra fingers or toes, severe clubfoot, and short, bowed lower legs. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tongue differences
- Cleft lip or cleft palate
- Small head (microcephaly)
- Small or missing shin bone
- Bulging eyes
- Blocked back of the nose (choanal atresia)
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 TCTN3 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 TCTN3 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: baraitser burn syndrome; baraitser-burn syndrome; mohr majewski syndrome; mohr-majewski syndrome; ofd iv - orofacial-digital syndrome iv; ofd syndrome with tibial defects
Patient organizations
- American Cleft Palate Craniofacial AssociationOrofacial-digital syndrome IV · United States
- FACES: The National Craniofacial AssociationOrofacial-digital syndrome IV · 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 Orofacial-digital syndrome IV.
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