Doctor insights on:
Physical Symptoms Of Down Syndrome
Down's syndrome: Delayed maturation of brain & body, result in small chin, oblique eye fissures with skin folds on inner corners of the eyes, flat nasal bridge, poor muscle tone, protruding tongue, flat face, short neck, lax joints, larger space between big toe & second toe, short fingers, short stature & bowed legs, obesity as they grow older. ...Read more
It is typically associated with a delay in cognitive ability (mental retardation, or mr) and physical growth, and a particular set of facial characteristics.
The average iq of young adults with Down syndrome is around 50, whereas young adults without the condition typically have an iq of 100. ...Read more
See NIH website:
See: www. Nchi. Nlm. Nih. Gov/pubmedhealth/pmh0001992/ for a full review.
Down syndrome results when a kid is born with too much chromosome material in his/her cells which confuses the system & results in anomalies & poor development. It cannot be fixed, but outcome can be improved with attention to associated problems. ...Read more
Maternal serum: Screening at 10-14 weeks + fetal ultrasound (fus) at 11-14 weeks + maternal "quad" screen at 16 weeks detects ~ 95% of fetuses with Down syndrome with <5% false-positive rate. Increased size of the fluid-filled space at the nape of the neck & abnormalities of blood flow in the heart are signs on early fus. Diagnostic testing is chorionic villus sampling at 10-12 weeks or amnio at 15-18 weeks. ...Read more
Many criteria: 1. Epicanthic folds give the superficial impression of mongoloid appearance. 2. A staight across palmar crease like that of an ape so it is called a symian crease.3. Obvious developmental delay.4.Often a tongue that seems to be too big for mouth. ...Read more
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 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 more
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
Long story!: The problem is duplication of genetic material (chromosome 21) in every cell of the body. There are facial features, heart problems, reduced muscle tone, and spinal, gi, ent, thyroid and blood-related issues as well. The biggest issue is mental deficiency. Ongoing surveillance and intervention by your pediatrician are important. So is developmental and school-based help. ...Read more
Many: Down syndrome patients may have prominent tongue, joint laxity and hypotonia, congenital heart defects, hyper or hypothyroidism, gastrointestinal issues including aspiration and ge reflux, neurologic mental retardation, constipation and hirschsprung's disease, congenital bowel issues (bowel atresias). Some with mild symptoms and findings and others more severe. ...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 more
Multiple symptoms: Down syndrome can have multiple congenital heart disease which includes atrial septal defect, hypoplastic left ventricle, tetrology of fallot, transposition of great vessels and ventricular septal defect. Some defects can have very few or no sign and symtoms while other may have bluish tinted nails or lips or fast or trouble or others may tire easily when feedind, or to be very sleepy. ...Read more
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
I am doing a presentation for my class on down syndrome and I need to know why it isn't dominant or recessive. P.S. I need a simplified answer
Seek info here:
Lots of HT doctors have answered this for others - here's a start. Just dig a bit further, but it's a good reply.
Source: HealthTap, https://edc1.healthtap. Com/user_questions/22610 ...Read more
Chromosome defect: Ds is one of the more common chromosome (c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.Here a pair of moms 21c +dad's 21 creates a baby with the extra 21c in all tissues. This extra material confuses the creation of body parts causing ds. Various prenatal tests can pick up signs early on. ...Read more
DNA defects: Chromosome 21 seems to be the cause. Two most common types are trisomy 21 where ther is an entire extra chromosome in each cell. The other is translocation where only an extra piece of the chromosome is found. It can be an isolated defect or an inherited defect. Rare exotic forms include polyploidy and haploid forms and chimeras. Sorry you asked? ...Read more
Chromosome defect: Ds is one of the more common chromosome (c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.In ds the pair of moms 21c +dad's 21 creates a baby with the three 21c in all tissues. This extra material confuses the creation of body parts causing ds. Various prenatal tests can pick up signs early on. ...Read more
Down syndrome: Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be cured but treatment and support can help someone with Down's syndrome to lead an active life. A number of advice and support groups are available for people with Down's syndrome and their families and carers. ...Read more
Mistake in chromosom: During the formation of normal eggs or sperm the chromosome (c) pairs are supposed to split leaving one of each in the egg/sperm. At conception the joining of egg/sperm brings together the pair & as tissue grows it has the proper number in each cell. With ds the egg has a pair of 21c and at conception a triple 21 is created. All cells derived after will have an extra 21 & become a ds child. ...Read more
Rarely: Downs syndrome is usually related to a trisomy defect that develops during the initial cleavage of the cells during primary fetal development. A form can occur as a translocation that may be carried by a parent. An assumption is that the 21 chromosome may be damaged by maternal age or by some environmental factor that then results in downs syndrome. Most cases are just by chance. ...Read more
Depends on parents: An unaffected mother or father could have a balanced (normal) set of chromasome material where a piece of one 21 chromasome is stuck on another. If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds. It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read more
No autosomal: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more