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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.