aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
aortic arch anomaly - peculiar facies - intellectual disability
related
aortic arch anomaly with peculiar facies and mental retardation
related
aortic arch anomaly-peculiar facies-intellectual disability syndrome
related
familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism
related