Patient: Hi there I was not sure which section to post this so I posted it in ‘General’. (This question is on behalf of my fiancee) She is concerned she might have a form of Down’s Syndrome and not truly know and she’s too scared to go to the Doctor’s office. She looked up symptoms on the Internet and found that she has these similarities: – A small mouth (no dental deformities, in fact has great teeth and no trouble eating or anything like that). – A gap between her big toe and second toe (not huge but noticeably different). – Sort of a flat back of the head but not completely flat. – An inward dip at the top point of the head, noticeable enough to feel it by touch but isn’t visible due to long hair. – Poor muscle tone, but that can be attributed to due to lack of exercise and poor diet. She doesn’t have low intelligence or a single palm crease and doesn’t have (what most articles say) the typical look of an individual with Down’s Syndrome. Thanks for your time and help.
Doctor: It is unlikely that you fiancee has Down’s Syndrome. Down syndrome is a genetic disorder that causes lifelong mental ret ardation, developmental delays and other problems. Usually diagnosis of Down’s syndrome is done prenatally by ultrasound and blood tests and your fiancee’s pediatrician would certainly have been able to diagnose Down’s based on appearance and milestone developments. If however your fiance would like to clear her doubts, her doctor may order for a test called a chromosomal karyotype. This test analyses a person’s chromosomes. If there’s an extra chromosome 21 present in all or some of the cells, the diagnosis of Down’s is made.