Down syndrome
Extra chromosome condition
Down syndrome is a genetic condition caused by an extra copy of chromosome 21, resulting in characteristic physical features and varying degrees of intellectual disability.
The condition is named after John Langdon Down, the physician who first described it in 1866.
Their son was born with Down syndrome.
Also called trisomy 21.
The older term mongolism is now considered offensive.
Three chromosomes at position twenty-one
- karyotypeOrganized chromosome display
- mosaicismMixed genetic makeup
- translocationMovement to another place
- cytogeneticsChromosome structure and inheritance science
meiosis · cell division · chromosomal abnormality · genetic condition · prenatal testing · amniocentesis · maternal age · genetic counseling
Decreased muscle tone condition
- developmental delaySlower-than-typical milestone achievement
- intellectual disabilityImpaired reasoning and adaptive skills
- thyroid dysfunctionAbnormal neck gland activity
- hearing lossReduced ability to perceive sound
vision problems · early intervention · speech therapy · occupational therapy · physical therapy · health screening · pediatric care · specialists
State of perceiving reality
- inclusionBeing made part
- acceptanceConsent to receive
- disability rightsProtections for impaired individuals
- self-advocacyPromoting one's own interests
education access · Special Olympics · integration · accessibility · empowerment · representation · awareness ribbon · community support
Prompt response to emerging problems
- support groupsGatherings for shared struggles
- respite careTemporary substitute caregiving
- assisted livingResidential care for elderly
- vocational trainingJob-skill education
Notably low height
- developmental milestonesExpected stages of child progress
- learning differencesCognitive processing variations
- speech developmentProcess of gaining verbal ability
- motor skillsCoordinated bodily movement ability
trisomy 21
Three chromosomes at position twenty-one
- karyotypeOrganized chromosome display
- mosaicismMixed genetic makeup
- translocationMovement to another place
cytogenetics · meiosis · cell division · chromosomal abnormality · genetic condition · prenatal testing · amniocentesis · maternal age · genetic counseling · screening
hypotonia
Decreased muscle tone condition
- developmental delaySlower-than-typical milestone achievement
- intellectual disabilityImpaired reasoning and adaptive skills
- thyroid dysfunctionAbnormal neck gland activity
hearing loss · vision problems · early intervention · speech therapy · occupational therapy · physical therapy · health screening · pediatric care · specialists
awareness
State of perceiving reality
- inclusionBeing made part
- acceptanceConsent to receive
- disability rightsProtections for impaired individuals
self-advocacy · education access · Special Olympics · integration · accessibility · empowerment · representation · awareness ribbon · community support · inclusive education
early intervention
Prompt response to emerging problems
- support groupsGatherings for shared struggles
- respite careTemporary substitute caregiving
- assisted livingResidential care for elderly
small stature
Notably low height
- developmental milestonesExpected stages of child progress
- learning differencesCognitive processing variations
- speech developmentProcess of gaining verbal ability
- Medical EponymsAlzheimer's, Parkinson's, Crohn's disease, Huntington's disease, Bell's palsy
- Childhood Conditionsasthma, diabetes, epilepsy, cystic fibrosis, cerebral palsy
- Genetic Conditionscystic fibrosis, sickle cell, hemophilia, Huntington's disease, Huntington's
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- Genetic Riskgenetic marker, genetic testing, genetic counseling, gene mutation, predisposition
- Neurodisabilitiescerebral palsy, autism, epilepsy, ASD, ADHD