aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Rare Disease

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 retardationaortic arch anomaly-peculiar facies-intellectual disability syndromefamilial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism

Definition

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.