Living with Oto-palato-digital syndrome, type I
An X-linked bone condition with hearing loss, cleft palate, and differences of the fingers and toes; usually the mildest of its group.
Understanding Oto-palato-digital syndrome, type I
It is usually the mildest of the otopalatodigital spectrum disorders. Features include wide-set, downslanting eyes, prominent brow, and a broad, flat nose. Fingers and toes can have square fingertips, short thumbs and big toes, and a wide gap between the first two toes. Hearing loss, cleft palate, and fewer teeth are common. Females often have fewer signs than males.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Cleft palate
- Missing teeth
- Short thumbs and big toes, and a gap between the first two toes
- Wide-set, downslanting eyes and a flat nose bridge
- Limited joint movement
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 FLNA 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 FLNA gene cause this condition. It is inherited in an X-linked way.
Also known as: opd 1 syndrome; opd i syndrome; opd syndrome 1; opd1; oto-palato-digital syndrome type 1; otopalatodigital syndrome type 1
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 Oto-palato-digital syndrome, type I.
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