I am posting this for my sister. Her daughter has had problems since birth and it has been suggested many times that she has some kind of syndrome. Almost every doctor that has seen her has suggested at first glance that she has Turners Syndrome due to her unusual facial features, but it?s not that as she has been tested. DSis struggles to cope with her as her behavioural problems are quite severe and she has sought help from SS in the past. Unfortunately, the SW very unhelpfully told DNiece that she looked like that because her mummy drank too much alcohol when she was pregnant! I can assure you, that is not the case.
It is incredibly frustrating as nobody knows what is wrong with her. One doctor told us that these syndromes are often diagnosed by chance, so it gave me the idea to post on here to see if anybody else can put this puzzle together or recognise the symptoms. DSis knows I am posting. Would really appreciate your help. These are some of her symptoms that the doctors have noticed:
Hyperteleorism
Telecanthus
Broad nasal bridge
Smooth philtrum
Tooth enamel defects
Short neck
Widely spaced nipples
Elbow abnormality
Ambiguous genitalia
Hernias
Short stature
Learning Difficulties (very low IQ)
Behavioural problems (constant headbanging, rocking, etc.)
Thanks for reading. Would appreciate any suggestions for what it might be. By the way, I am a regular, not to protect my anonymity, but my sister?s. Thanks.
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General health
Medical Mystery: possible syndrome disorder
36 replies
toomuchchristmaspudding · 08/12/2012 08:51
OP posts:
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