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Aortic arch anomaly - peculiar facies - intellectual disability

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Aortic arch anomaly - peculiar facies - intellectual disability
SpecialtyMedical genetics
Symptomsheart anomalies, craniofacial dysmorphisms, and intellectual disabilities
ComplicationsDeath
Usual onsetBirth
DurationLife-long
CausesAutosomal dominant inheritance
Preventionnone
PrognosisOk to Bad
Frequencyvery rare, only 4 cases have been reported
Deaths2-4

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]

Signs and symptoms

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People with this disorder usually have the following symptoms:[3]

Heart

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  • Right-sided aortic arch

Craniofacial

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Intellect

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Etiology

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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]

References

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  1. ^ a b "Orphanet: Aortic arch anomaly peculiar facies intellectual disability syndrome". www.orpha.net. Retrieved 2022-07-16.
  2. ^ "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome (Concept Id: C1862682) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-21.
  3. ^ "Aortic arch anomaly - peculiar facies - intellectual disability - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-21.
  4. ^ Strong, W. B. (December 1968). "Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism". The Journal of Pediatrics. 73 (6): 882–888. doi:10.1016/s0022-3476(68)80241-0. ISSN 0022-3476. PMID 5696314.
  5. ^ "OMIM Entry - 107500 - AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION". www.omim.org. Retrieved 2022-05-21.