Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly that is characterized by heart abnormalities, cranio-facial dysmorphia, and intellectual disabilities. No new cases have been reported since 1968.
Signs and symptoms People with this disorder usually have the following symptoms:
Heart Right-sided aortic arch
Craniofacial Microcephaly Facial asymmetry Frontal bossing Hypertelorism Deviated nasal septum Rather large nasal cavity Prominent, rotated ears Microstomia
Intellect Intellectual disabilities
Etiology This disorder was first discovered in 1968, when a mother and 3 of her children (4 cases) were described with the symptoms mentioned above. In this case, additional features were found in a majority of the patients; three of the patients had esophageal indentation and left ligamentum arteriosum, two of the patients, a still-born baby, had anencephaly. Another child died due to congenital heart disease. The child in question also had microcephaly. This disorder is suspected to be autosomal dominant.
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