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Disease Profile
Down syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Trisomy 21; Down's syndrome
Summary
Down
Symptoms
- Congenital hypothyroidism
Hearing loss Congenital heart defects Seizures - Vision disorders
- Decreased muscle tone (
hypotonia )
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.[2]
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.[2]
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Short fingers or toes
|
0001156 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flat face |
Flat facial shape
|
0012368 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Round ear | 0100830 | |
Short neck |
Decreased length of neck
|
0000470 |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of |
0010978 | |
Abnormality of the fontanelles or cranial sutures | 0000235 | |
Abnormality of the |
0100763 | |
Bilateral single transverse palmar creases | 0007598 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Decreased fertility |
Abnormal fertility
|
0000144 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Microdontia |
Decreased width of tooth
|
0000691 |
Narrow mouth |
Small mouth
|
0000160 |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Obesity |
Having too much body fat
|
0001513 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ] |
0010808 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
Umbilical hernia | 0001537 | |
5%-29% of people have these symptoms | ||
Acute megakaryocytic leukemia | 0006733 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Anal atresia |
Absent anus
|
0002023 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ] |
0008678 |
Sparse hair | 0008070 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
Percent of people who have these symptoms is not available through HPO | ||
Alzheimer disease |
Late-onset form of familial Alzheimer disease
|
0002511 |
Atlantoaxial instability | 0003467 | |
Broad palm
Cause There are 3 possible genetic causes of Down
Regardless of the type of Down syndrome a person has, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This extra
Diagnosis Down
During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A Diagnostic tests during pregnancy can determine with certainty whether a fetus has Down syndrome, but they are invasive and carry a slight risk of miscarriage. Examples of diagnostic tests include chorionic villus sampling in the 1st trimester and In recent years, non-invasive prenatal testing (NIPT) has become available to women who are at increased risk to have a baby with Down syndrome. NIPT is a blood test that examines People with questions about the different options for prenatal screening or diagnostic testing should speak with a If a diagnosis of Down syndrome is not made prenatally, the diagnosis can be made in the newborn. Down syndrome may be suspected if a newborn has characteristic physical features of the condition. The diagnosis can then be confirmed by obtaining a TreatmentEarly intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down
Management Guidelines
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
Rare Ophthalmology News |