Orphanet: Aortic arch anomaly facial dysmorphism intellectual disability syndrome

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Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Disease 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.

ORPHA:1110

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 107500
UMLS: C1862682
MeSH: C537785
GARD: 739
MedDRA: -

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Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110

A summary on this disease is available in Deutsch (2005) Español (2014) Français (2014) Italiano (2014) Nederlands (2014)

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