syndromic intellectual disability aortic arch anomaly-facial dysmorphism-intellectual disability syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/aortic_arch_anomaly_facial_dysmorphism_intellectual_disability_syndrome https://www.malacards.org/card/aortic_arch_anomaly_with_peculiar_facies_and_impaired_intellectual_development MESH:C537785 Orphanet:1110 aortic arch anomaly-peculiar facies-intellectual disability syndrome aortic arch anomaly with peculiar facies and mental retardation 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. MEDGEN:350734 MONDO:0007143 GARD:0000739 familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism OMIM:107500 UMLS:C1862682 aortic arch anomaly - peculiar facies - intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability