Living with Cleft palate-stapes fixation-oligodontia syndrome
A very rare syndrome with cleft palate, hearing loss from a stuck middle ear bone, and few or missing teeth.
Understanding Cleft palate-stapes fixation-oligodontia syndrome
Features include severe lack of baby teeth, no permanent teeth, hearing loss in both ears from a fixed stapes bone in the middle ear, short big toes with a wide gap, and fused wrist and ankle bones. GARD says there have been no new descriptions in the medical literature since 1971. It lists onset at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Hearing loss in both ears (conductive)
- Few or missing teeth
- Fused wrist or ankle bones
- Missing ear canal
- Eyes set widely apart
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 genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD lists this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: cleft palate, deafness, and oligodontia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cleft palate-stapes fixation-oligodontia syndrome.
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