Living with Orofaciodigital syndrome I
An X-linked condition affecting the mouth, face, and fingers and toes, also linked to polycystic kidney disease.
Understanding Orofaciodigital syndrome I
The OFD1 gene plays a role in the early development of the brain, face, limbs, and kidneys. It is the most common orofaciodigital syndrome and differs mainly by its link to polycystic kidney disease. It may be diagnosed at birth, or suspected only after kidney disease is found in later childhood or adulthood. 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:
- Cleft lip and cleft palate
- Extra tissue bands in the mouth and lobed tongue
- Missing or abnormal teeth
- Extra or joined fingers and toes
- Facial asymmetry
- Polycystic kidney disease
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 OFD1 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, World Craniofacial Foundation and National Foundation for Ectodermal Dysplasias 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, National Foundation for Ectodermal Dysplasias
- 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 OFD1 gene cause this condition. It is inherited in an X-linked dominant way.
Also known as: ofd syndrome 1; ofd1; ofdi; ofds 1; ofds i; ofdsi
Patient organizations
- American Cleft Palate Craniofacial AssociationOrofaciodigital syndrome I · United States
- FACES: The National Craniofacial AssociationOrofaciodigital syndrome I · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Orofaciodigital syndrome I.
Explore research for Orofaciodigital syndrome I
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