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aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

MONDO:0007143

Also known as:aortic arch anomaly - peculiar facies - intellectual disabilityaortic arch anomaly with peculiar facies and intellectual disabilityaortic arch anomaly with peculiar facies and mental retardation

Overview

Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for aortic arch anomaly-facial dysmorphism-intellectual disability syndrome.

15 publications have been identified in PubMed for aortic arch anomaly-facial dysmorphism-intellectual disability syndrome. Research spans Clinical Trial Publication (40%), Case Report / Case Series (33%), and Review / Meta-Analysis (27%).

Research Type	Count	% of Total
Clinical study results	6	40%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:107500

Orphanet

European rare disease database

Orphanet:1110

GARD

Genetic and Rare Diseases Info Center

GARD:739

Questions for Your Care Team

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aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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