Doctor insights on:
Physical Effects Of Down Syndrome
Always is a big word: I have encountered some with very mild features & one that had the features of a dwarf & none recognizable as DS.Since every cell of their body has the same extra chromosome, certain organs/areas tend to have the same problems. Their facial features/hands/feet are similar.Their heart often has a defect,but not always the same one. They share similarities but there is variation within this group. ...Read moreSee 1 more doctor answer
Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...Read more
No: The vast majority of ds patients will have enough similarities in physical appearance to be recognised by knowledgable people.Yet all do not. I recall a case where an infant appeared to have many features of a different chromosome defect had 21 trisomy, verified by 3 separate studies.I have also seen a case thet had features so mild, the 21 trisomy was initially considered an error. ...Read moreSee 1 more doctor answer
Chromosome influence: The size & shape of the skull & facial features of down syndrome patients is heavily influenced by the effect of the extra chromosome present in every cell of the body.The same goes for eyes, hands & feet all of which require a lot of decoding during formation to produce the structures.Other chromosome defects produce some common features to those born with any such abnormality. ...Read more
If I have some of the physical signs of Down syndrome like a simian crease but don't have down syndrome, am I more likely to have a child with downs?
No: Some of the features seen in down syndrome persons are also seen in other hereditary disorders, and some features are seen in normal people. A normal person can have a single horizontal palmar crease (simian crease), but his simian crease is just a trait he has, and has nothing to do with down syndrome. A normal person with a simian crease is not more likely to have a down syndrome baby. ...Read moreSee 2 more doctor answers
My grandaughter has lost volume in the front of her brain. She has Down syndrome and west syndrome. How will this affect her physical and mental deve?
Misunderstanding?: A question like this is too important, and takes more knowledge of her individuality, for us to be able to answer. Down syndrome brains are shaped slightly differently from the rest of us and almost all of them have less volume in the front, which tends to be squared. Might it be that she has always been like this? ...Read more
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