Aortic arch anomaly - peculiar facies - intellectual disability

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Aortic arch anomaly - peculiar facies - intellectual disability
Synonyms Aortic arch anomaly, Peculiar facies, Intellectual disability
Pronounce N/A
Specialty N/A
Symptoms Facial dysmorphism, Developmental delay, Congenital heart defect
Complications Cardiovascular complications, Learning disabilities
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history of genetic disorders
Diagnosis Genetic testing, Echocardiogram, MRI
Differential diagnosis DiGeorge syndrome, Williams syndrome
Prevention Genetic counseling
Treatment Supportive care, Surgical intervention
Medication N/A
Prognosis Varies depending on severity
Frequency Rare
Deaths N/A


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

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


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Aortic arch anomaly - peculiar facies - intellectual disability

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