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afya Syndromes

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20160425222422 Ben  
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''Patau'' (trisomy 13)
Microcephaly, small eyes, cleft lip/palate, polydactyly, scalp lesions

''Edwards'' (trisomy 18)
Micrognathia, low set ears, rocker bottom feet, overlapping fingers

''Fragile X''
Learning difficulties, macrocephaly, long face, large ears, macro-orchidism

''Noonan''
webbed neck, pectus excavatum, short stature, pulmonary stenosis

''Pierre-Robin''
Micrognathia, post displaced tongue, cleft palate
similar to treacher-collins but that is autosomal dominant so usually family history

''Prader-Willi''
Hypotonia, hypogonadism, Obesity

''Williams''
short stature, learning difficulties, friendly extrovert, supravalvular aortic stenosis, transient neonatal hypercalcaemia