Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. In addition, there is a higher incidence of pneumonia in children with Down syndrome than in the general population.Children with Down syndrome have developmental delay. They are often slow to turn over, sit, and stand. Developmental delay may be related to the child's weak muscle tone. Development of speech and language may also take longer than expected. Children with Down syndrome may take longer than other children to reach their developmental milestones, but many of these milestones will eventually be met.
Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Acute megakaryocytic leukemia||-|
|Complete atrioventricular canal defect||-|
|Conductive hearing impairment||-|
|Hypoplastic iliac wing||-|
|Shallow acetabular fossae||-|
|Short middle phalanx of the 5th finger||-|
|Single transverse palmar crease||-|
|Thickened nuchal skin fold||-|
|Upslanted palpebral fissure||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Can Down syndrome in a baby be identified during pregnancy? By whom, general doctors, a gynecologist or a geneticist? Through normal scanning or other methods of identification? See answer
Does non-invasive prenatal testing screen for the rare forms of Down syndrome such as translocation or mosaic Down syndrome? Or does it only test for Down syndrome caused by having an extra chromosome? Would an amnio or CVS detect the rare forms? See answer
My daughter has Down syndrome and is very high functioning. In the last few months she has begun to regularly move her head and eye gaze from side to side in a very ritualized set of movements. Is this symptom common to children with Down syndrome? What might be the cause of these movements? See answer
Can Down syndrome be treated? Where can I learn about ongoing research studies? See answer
What causes Down syndrome? See answer
I lost a daughter in the late 70's due to complications from long segment Hirschsprung disease. I also lost a little sister when she was 6 months-old. She had Down syndrome, a heart defect, cleft lip and cleft palate, and a single kidney. Are these conditions related? My children are thinking about starting a family of their own. They would like to learn more about risks to their future offspring. See answer
I have a single palmar crease on both of my hands. Do I have an increased chance of having a child with Down syndrome or another chromosome disorder? See answer
My daughter is 9 months old and has Down syndrome. She also has a strong, fish-like odor coming from the mouth. Is it possible that she could also have trimethylaminuria? How might a person be tested for this condition? See answer
My second daughter, age one year, is affected by Trisomy 21 (Down syndrome). The doctors here say that there is no cure for Down syndrome. Can't the extra chromosome be delinked from other cells? Can't the extra chromosome be deactivated? Please help us, if there is any cure for Down syndrome. See answer