Aortic arch anomaly - peculiar facies - intellectual disability
Medical condition
From Wikipedia, the free encyclopedia
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.[1][2]
| Aortic arch anomaly - peculiar facies - intellectual disability | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | heart anomalies, craniofacial dysmorphisms, and intellectual disabilities |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Autosomal dominant inheritance |
| Frequency | Only 4 cases reported |
| Deaths | 2-4 |
Signs and symptoms
People with this disorder usually have the following symptoms:[3]
Heart
- Right-sided aortic arch
Craniofacial
- Microcephaly
- Facial asymmetry
- Frontal bossing
- Hypertelorism
- Deviated nasal septum
- Rather large nasal cavity
- Prominent, rotated ears
- Microstomia
Intellect
Etiology
This disorder was first discovered in 1968,[4] 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.[5] This disorder is suspected to be autosomal dominant.[1]