Living with Oto-palato-digital syndrome, type II
An X-linked bone condition with hearing loss, cleft palate, and finger and toe differences, plus possible brain and heart differences.
Understanding Oto-palato-digital syndrome, type II
It also tends to affect other areas, such as the brain and heart. Facial features include wide-set, downslanting eyes, a broad, flat nose, and a very small jaw. Fingers are often curved, and thumbs and big toes may be short or missing. People are usually short with bowed limb bones, and underdeveloped ribs can cause breathing problems. 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:
- Cleft palate
- Short or missing thumbs and big toes
- Bowed long bones and short stature
- Missing teeth
- Heart wall or valve differences
- Delayed development overall
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: faciopalatoosseous syndrome; opd 2 syndrome; opd ii syndrome; opd syndrome 2; opd2; otopalatodigital syndrome type 2
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 II.
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