Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome?
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