Doctor insights on:
Down Syndrome And Upward Slanting Eyes
Why do Down syndrome patient have their eyes slanted upward, is it caused by the chromosome 21, I need an explanation on why their face look different?
In the genes: All of our features are determined by our genes. The appearance of your eyes, nose, mouth, hair color, skin color, among other features are all inherited. When there is a defect in the gene coding, changes can occur. Facial features can change with in utero exposure such as alcohol (fas syndrome). For downs, the extra 21 causes low ears, slanted eyes, simian crease as well as organ problems. ...Read more
DEPENDS: How slanted and how big. These are features subject to personal interpretation and are seen in the normal population. They can mirror the parents or other family members. If there are really concerns there are blood tests that can confirm or exclude that diagnosis. These features alone are of little value in making that determination. ...Read more
Chromosome influence: The size ; shape of the skull ; facial features of Down syndrome patients is heavily influenced bu 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. Many other chromosome defects produce some common features to those born with the abnormality. ...Read more
Possibly: Down syndrome does not prevent you from being treated. The issue is related to the cause of the lazy eye. If the eye is not straight, it can be surgically corrected if the child is young enough. If the lazy eye is prescription-related, it can be treated with glasses and/or patching as long as the patient can tolerate it. ...Read more
Doctor queried Down syndrome in my baby (72 hrs old). Echo test is ok, no short hand, no groove between toes, no white spots in eye, mother age 20, ears ok?
Any age mom: Ds can occur at ang maternal age but numbers climb a lot for older moms. If doc suspects some unusual issue it is best that s/he be up front about it and do appropriate screening or specific tests to define it. Proper diagnosis can either relieve you or make sure early treatments are started. ...Read more
I'm 28. 19 wk preg. Had u/s. Normal however tech found white spot on left ventricle. Tech said may indicate down syndrome. What are the chances?
Time for consultatn: I would review the study with the radiologist or your OB before taking the comments of a tech. Some are knowledgeable and some less so. It is considered unprofessional for any to give information to a parent before review by the physician. ...Read more
23 year old pregnant woman, 13 wks, nt scan read 3mm, and 1:5 chance for Down syndrome, are my chances high? What are my odds? No d.s history in fam!
Very low: The numbers you are telling me, your chances are very low, I will not worry that much ...Read more
Extra 21 chromosome: The majority of Down syndrome develops when the fertilized egg gets an extra number 21 chromosome from the mother. When that cell divides and forms an embryo, every one of the cells in the baby's body have that extra 21 chromosome. There are rare cases where a baby inherits an extra part of the 21 chromosome from one of it's parents. The extra genes on the 21 chromosome cause the down syndrome. ...Read more
For an assessment:
Of the child's developmental needs & toilet-training readiness, if < 3 yrs. Old, call Pam Barton,
Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. Old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106.
At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more
Every cell affected: Down syndrome is caused by having an extra copy of chromosome 21. Typically, this is caused by having three full copies of chromosome 21, also known as trisomy 21. Every cell in the body has an abnormal number of chromosomes, so it's easy to imagine that multiple organ systems would be affected. A valuable resource for Down syndrome health supervision is available from the aap. Www. Aap. Org. ...Read more
Blood test: The confirmation of this diagnosis is best done with a blood test with chromosome analysis. This is the best way to confirm or exclude the diagnosis. It also allows for sub-classification into the several forms. There is classical, mosaic, and translocation forms of ds. ...Read more
Downs Syndrome: Downs syndrome affects the nervous system like intelectual disability. It can affect heart with congenital heart disease.Thyroid may be affected like congenital hypothyroidism, increased incidense of hirschsprung disease, duodenal atresia, gastro esophagial reflux disease. I fertility in men and women have increase incidence of misscarriage, prematurity. Risk of epilepsy, eye and ear diorders&hearing loss. ...Read more
None of the above: 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
Accounts for 1% DS: Mosaicism is encountered in ds patients & I have followed one in the past. By definition, some tissues are composed of cells with normal information & other tissues have the abnormal, but the mix could vary greatly in the percentage of either. Functional outcome depends on that blend & whether the abnormally derived tissues compose critical structures like brain, blood, reproductive organs, etc. ...Read more
DEPENDS ON SEVERITY-: Poor muscle tone; flat face ; nasal bridge; upward slanted eyes w/epicanthic folds; low set ears; open mouth w/protruding tongue; short neck w/excessive skin on nape; short, broad hands; incurved 5th finger; transverse palmar crease; wide gap betn 1st ; 2nd toe; joint hyper flexibility; intellectual/ developmental delay w/mental retardation; congenital heart ; GI malformation, short stature etc. ...Read more
ACOG charts show the: Risk of having a fetus with a Trisomy 21, Down Syndrome, at prenatal diagnosis vs. The risk of having a live-born infant with DS because ~ 25% are lost. If there is no family history or prior infant with DS, at age 42 at delivery, the risk is 1/63; risk at 16 weeks' gestation is 1/50 - 1/55. Risk of any chromosomal disorder at term is 1/42. If 43 at term, DS risk is 1/49; of any trisomy, 1/33. ...Read more
Physical and genetic: Down's syndrome is a genetic disorder having one too many of the 21 chromosome. Most are detected on the triple screen, followed by genetic testing on amniocentesis. However, there are physical signs to look for: a single palmar crease, very weak musculature, distinct facial features, and heart defects. There are other smaller signs. There will be developmental delay, and other health issues later. ...Read more
Supportively: Down syndrome itself does not need to be treated however certain conditions that can go along with ds should be managed and prevented if possible. These include monitoring for disturbances in growth and obesity, getting a cardiac workup to evaluate the heart function, have hearing and vision testing, check thyroid function, monitor the blood yearly for abnormal blood counts, good dental hygiene. ...Read more