Aortic arch anomaly - peculiar facies - intellectual disability

Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly which 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.