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Aortic arch anomaly - peculiar facies - intellectual disability

Orpha number ORPHA1110
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1862682
MeSH
  • C537785
MedDRA -

Summary

Right aortic arch-peculiar facies-intellectual deficit is a rare association syndrome. It has been reported in one family only, affecting a mother and three of her children. Three of the patients had esophageal indentation demonstrated by X ray examination after barium swallow, suggesting left ligamentum arteriosum or anomalous left subclavian artery. Two of the patients had microcephaly. A stillborn child had anencephaly and another died at 10 months with congenital heart disease and microcephaly. This association may be inherited as an autosomal dominant condition.


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