Aortic arch anomaly - peculiar facies - intellectual disability

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.

Aortic arch anomaly - peculiar facies - intellectual disability
Specialty	Medical genetics
Symptoms	heart anomalies, craniofacial dysmorphisms, and intellectual disabilities
Complications	Death
Usual onset	Birth
Duration	Life-long
Causes	Autosomal dominant inheritance
Prevention	none
Prognosis	Ok to Bad
Frequency	very rare, only 4 cases have been reported
Deaths	2-4

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.