Genetic Disorders Expert Forum
very high arched palate, spoon shaped toe nails, seizures,patchy hir co...
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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very high arched palate, spoon shaped toe nails, seizures,patchy hir color

Are there genetic conditions that would present with spoon shaped large toenails {curve i rather than out} very high arched palate in his mouth, seizures, patchy hair color, and he will chew his food {obviously likes the taste} but hardly ever swollows it. He was a very large birth weight{9 pounds 11.8 oz}  He is 22 monhs old, says hundreds of words, but doesn't conect two words!
886824_tn?1253740254
It sounds like your son has a lot going on. It may be possible that one genetic syndrome may account for the different features that you have described. An accurate diagnosis can help provide important information about symptom management, what to expect in the future, as well as implications for other family members.

We recommend that your son meet with a medical geneticist who can perform a detailed physical exam that can guide the genetics tests and other tests ordered. You can find a medical geneticist through the American College of Medical Genetics website.  

We wish you and your son the best.
2 Comments
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887324_tn?1241733637
Sorry!!!   He also has blue/grey sclera
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