Living with Imperforate oropharynx-costo vertebral anomalies syndrome
A very rare condition present at birth with a closed throat opening, jaw and ear differences, and rib and spine changes.
Understanding Imperforate oropharynx-costo vertebral anomalies syndrome
It is present from birth. Features include mild differences in the jaw and face, ear malformations, and spine and rib anomalies. GARD notes there have been no further descriptions in the medical literature since 1989.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Closed oropharynx (back of the mouth)
- Differences in the shape of the lip and philtrum
- Differences in the ear
- Abnormal shape of the spine bones
- Rib differences
- Differences in the mouth and pharynx
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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 doesn't describe a cause for this condition yet.
Also known as: imperforate oropharynx-costovertebral anomalies syndrome; imperforate oropharynx, costovertebral anomalies syndrome; seghers syndrome
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 Imperforate oropharynx-costo vertebral anomalies syndrome.
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