Living with Orofaciodigital syndrome type 14
A rare genetic condition with a small head, severe intellectual disability, and mouth, face, and finger or toe differences.
Understanding Orofaciodigital syndrome type 14
Symptoms include a small head, a triangular head shape, severe intellectual disability, and small penis size (micropenis). There are also mouth, face, and digit differences, such as cleft palate, extra fingers or toes, and abnormal tongue or gum tissue. People may be born with differences in how the brain is built and works. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Cleft palate and cleft tongue
- Differences in the structure of the brain, including Dandy-Walker malformation
- Widely spaced eyes (telecanthus)
- Broad big toes and extra toe bones
- Undescended testes
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 C2CD3 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
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: 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 World Craniofacial 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 C2CD3 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: c2cd3 orofaciodigital syndrome; microcephaly-cerebral malformation-orofaciodigital syndrome; microcephaly, cerebral malformation, orofaciodigital syndrome; ofd14; oral-facial-digital syndrome type 14; oro-facial digital syndrome type 14
Patient organizations
- 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 14.
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