Imperforate oropharynx-costovertebral anomalies syndrome

What is Imperforate oropharynx-costovertebral anomalies syndrome?

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.

Other condition names

  • Seghers syndrome

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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