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Hello I am a mother of 3 and I have a 5yr old with an undiagnosed genetic syndrome. The genetics doc thinks it is Williams syndrome but she is not missing the elastin gene but there are 1% of children who have WS who arent missing the gene, I just found an article that has done test on children who werent missing the elastin gene and have WS I need to find out what are hypoplastic nail to see if that is a symptom she has.
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What Is The Treatment For Williams Syndrome?
Hello Disfigured ill formed nail are hypoplastic nail. William syndrome consists of supravalvular aortic stenosis, mental retardation also. I hope this helps