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Miller Dieker syndrome, MDS, is a rare genetic disorder. Its signs and symptoms include severe abnormalities in brain development as well as characteristic facial features.
The abnormal brain development associated with Miller Dieker syndrome is known as lissencephaly.
In addition to lissencephaly, people with Miller Dieker syndrome tend to have distinctive facial features that include a prominent forehead; a sunken appearance in the middle of the face (midface hypoplasia); a small, upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip.
Some individuals with this condition also grow more slowly than other children. Rarely, affected individuals will have heart or kidney malformations or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel.
Most individuals with this condition do not survive beyond childhood.
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Our tests are not a substitute for seeing your doctor, especially if you are suffering symptoms. Our doctors will interpret your results based on the information you have provided, but will not diagnose, consult or provide any treatment. You will be advised to see your doctor for any necessary follow-up action.
We will send you your Miller Dieker Syndrome blood test sample collection kit together with the details of a convenient clinic where you can go and have your sample taken.
Your Miller Dieker Syndrome test includes 1st class postage and packaging for you to send your blood sample directly to our laboratory for analysis. If you live in an area where you cannot rely on the post or you simply want to ensure that your sample arrives at the laboratory the following day, you may wish to send your blood sample guaranteed next day delivery for extra reassurance.
Your blood sample will be analysed at one of our chosen laboratories. You can be assured of fast, accurate results from one of our accredited independent providers of clinical diagnostic tests.
Our medical team will comment on out-of-range blood test results and give you follow-up advice where necessary. If you need it, a PDF copy of your Miller Dieker Syndrome test results can be downloaded for your doctor.
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