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Choanal atresia - deafness - cardiac defects - dysmorphism

Orpha number ORPHA1200
Synonym(s) Burn-McKeown syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Unknown
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by bilateral choanal atresia associated with a characteristic facial appearance (prominent ears, hypertelorism with short palpebral fissures and abnormalities of the outer third of the lower eyelid). It has been described in five children from three families. In one case a herniation into the anterior chamber of the eye required unilateral enucleation. Three of the children had cardiac septal defects, three had hearing loss and two had unilateral cleft lip. All the children had normal psycho-motor development. Although there is considerable overlap between these features and the CHARGE association, the striking similarities between the five reported children supports the hypothesis that this syndrome is a distinct entity. As there has been recurrence in two of the three reported families, this syndrome is likely to be caused by a single gene defect, with a strong candidate gene region at distal 18p or 18q. Management should be multidisciplinary and hearing should be evaluated.


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