Aortic arch anomaly - peculiar facies - intellectual disability

Alternate names

Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism; Aortic arch anomaly-peculiar facies-intellectual disability syndrome; Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Definition

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.

NIH genetic and rare disease info

• NIH info on Aortic arch anomaly - peculiar facies - intellectual disability

Aortic arch anomaly - peculiar facies - intellectual disability is a rare disease.

Resources

Frequently asked questions

‎