Overview
Imperforate oropharynx-costovertebral anomalies syndrome is an extremely rare condition present at birth that affects the development of the mouth, throat, ribs, and spine. The hallmark feature is an imperforate oropharynx, which means the back of the mouth and throat are blocked or sealed off, preventing normal breathing and swallowing. This is combined with costovertebral anomalies, meaning abnormalities in the ribs and the bones of the spine (vertebrae). These rib and spine defects can vary in severity and may include fused, missing, or misshapen vertebrae and ribs. Because the airway and feeding passage are blocked at birth, this condition is a medical emergency in newborns. Babies born with this syndrome typically need immediate intervention to establish an airway and allow breathing. Additional features may include other facial or skeletal abnormalities. Due to the extreme rarity of this syndrome, very few cases have been described in the medical literature, and the underlying genetic cause has not been clearly established. Treatment is primarily surgical and supportive, focusing on opening the airway, enabling feeding, and managing any associated skeletal problems. The long-term outlook depends heavily on the severity of the anomalies and how successfully they can be corrected through surgery and ongoing care.
Also known as:
Key symptoms:
Blocked or sealed-off throat (imperforate oropharynx)Inability to breathe normally at birthInability to swallow or feedAbnormally shaped or fused ribsAbnormally shaped or fused vertebrae (spine bones)Facial abnormalitiesShort neckBreathing difficultiesFailure to thrive due to feeding problemsPossible limb abnormalities
Clinical phenotype terms (27)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Imperforate oropharynx-costovertebral anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Imperforate oropharynx-costovertebral anomalies syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Imperforate oropharynx-costovertebral anomalies syndrome.
Community
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's airway blockage, and what is the plan to manage it?,Will my child need a tracheostomy, and if so, for how long?,What feeding method is best for my child, and will they eventually be able to eat by mouth?,How serious are the rib and spine abnormalities, and will surgery be needed?,Is genetic testing recommended, and could this condition affect future pregnancies?,What specialists should be part of my child's care team?,What is the long-term outlook for my child's development and quality of life?
Common questions about Imperforate oropharynx-costovertebral anomalies syndrome
What is Imperforate oropharynx-costovertebral anomalies syndrome?
Imperforate oropharynx-costovertebral anomalies syndrome is an extremely rare condition present at birth that affects the development of the mouth, throat, ribs, and spine. The hallmark feature is an imperforate oropharynx, which means the back of the mouth and throat are blocked or sealed off, preventing normal breathing and swallowing. This is combined with costovertebral anomalies, meaning abnormalities in the ribs and the bones of the spine (vertebrae). These rib and spine defects can vary in severity and may include fused, missing, or misshapen vertebrae and ribs. Because the airway and
How is Imperforate oropharynx-costovertebral anomalies syndrome inherited?
Imperforate oropharynx-costovertebral anomalies syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Imperforate oropharynx-costovertebral anomalies syndrome typically begin?
Typical onset of Imperforate oropharynx-costovertebral anomalies syndrome is neonatal. Age of onset can vary across affected individuals.