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
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.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
|Acute megakaryocytic leukemia||0006733|
Enlarged colon lacking nerve cells
Late-onset form of familial Alzheimer disease
Short and broad skull
Wide palm[ more ]
|Complete atrioventricular canal defect||0001674|
|Conductive hearing impairment||
Conductive hearing loss[ more ]
Prominent eye folds[ more ]
Flat facial shape
|Hypoplastic iliac wing||0002866|
Mental retardation, nonspecific
Mental-retardation[ more ]
Loosejointedness[ more ]
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
Underdeveloped ears[ more ]
Low or weak muscle tone
Tongue sticking out of mouth[ more ]
|Shallow acetabular fossae||0003182|
|Short middle phalanx of the 5th finger||
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger[ more ]
Decreased body height
Small stature[ more ]
|Single transverse palmar crease||0000954|
|Thickened nuchal skin fold||
Thickened skin folds of neck
Thickened skin over the neck[ more ]
|Upslanted palpebral fissure||
Upward slanting of the opening between the eyelids
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
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