Definition: disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, malar hypoplasia with droopy cheeks, full lips, supravalvar aortic stenosis, neonatal hypocalcemia, mild mental retardation, and loquacious personality. Autosomal dominant inheritance; this is a contiguous gene deletion syndrome, and one of the genes mutated is the elastin gene (ELN) on chromosome 7q.
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