According to the<unk>  Association, its diagnosis begins with the recognition of physical symptoms and markers, which is followed by a confirmatory genetic test. The physical signs that often indicate a suspected case of<unk>  include puffiness around the eyes, a long philtrum, and a stellate pattern in the iris. Physiological symptoms that often contribute to a<unk>  diagnosis are cardiovascular problems, particularly aortic or pulmonary stenosis, and feeding disturbance in infants. Developmental delays are often taken as an initial sign of the syndrome, as well. If a physician suspects a case of<unk> , the diagnosis is confirmed using one of two possible genetic tests: Micro-array analysis or the fluorescent in situ hybridization test, which examines chromosome 7 and probes for the existence of two copies of the elastin gene. Since 98-99% of individuals with<unk>  lack half of the 7q11.23 region of chromosome 7, where the elastin gene is located, the presence of only one copy of the gene is a strong sign of<unk> . This confirmatory genetic test has been validated in epidemiological studies and has been demonstrated to be a more effective method of identifying<unk>  than previous methods, which often relied on the presence of cardiovascular problems and facial features (which, while common, are not always present). Reliance on facial features to identify<unk>  may cause a misdiagnosis of the condition. Among the more reliable features suggestive of<unk>  are congenital heart disease, periorbital fullness ("puffy" eyes), and the presence of a long, smooth philtrum. Less reliable signs of the syndrome include anteverted nostrils, a wide mouth, and an elongated neck. Even with significant clinical experience, reliably identifying<unk>  based on facial features alone is difficult.
Williams syndrome
Noonan syndrome
Wolfram syndrome
DiGeorge syndrome
Kaufman oculocerebrofacial syndrome
Fetal alcohol spectrum disorder
GAPO syndrome
Muenke syndrome