Down syndrome
Rare disease
Yes
- Definition
- Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Down syndrome
- Down syndrome
- Down syndrome
- Down syndrome, Isolated cases
- Down's syndrome
- leukemia, megakaryoblastic, with or without Down syndrome, somatic
- trisomy 21 (Down syndrome)
- complete trisomy 21 syndrome
- trisomy 21
- trisomy 21 syndrome
- Severity
- Severe
- Chromosomal
- Genetic
- MONDO ID
- MONDO:0008608
- Parent condition
- MONDO:0700124
Related records
Broader conditions (7)
- Autosomal anomaly
- Chromosomal disorder
- Chromosome 21 disorder
- Disease
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Human disease
Narrower conditions (10)
- Balanced Robertsonian translocation Down syndrome
- Complete trisomy 21
- Mosaic translocation Down syndrome
- Mosaic trisomy 21
- Partial segmental duplication
- Reciprocal translocation down syndrome
- Robertsonian translocation Down syndrome
- Translocation Down syndrome
- Trisomy 21
- Unbalanced Robertsonian translocation Down syndrome
Trials (429)
- 10-Week Physical Activity Program for Mothers of Children With Developmental Disabilities
- 19/5000 (SYNAPSOT21) Predictive Factors of Sleep Apnea Syndrome in Down Syndrome
- A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia
- A Bicycle Training Intervention
- A Comparison of Cognitive-Motor Dual-Task Exercise and Exergaming on Balance, Functional Mobility, and Executive Function in Down Syndrome Children
- A Double-blind, Placebo-controlled Comparative Study and Open-label Extension Study to Confirm the Efficacy and Safety of E2020 in Subjects With Down Syndrome Having Regression Symptoms and Disabled Activities of Daily Living.
- A Molecular and Functional Brain Imaging Study in Individuals With Down Syndrome and Healthy Controls Following Single Dose RG1662
- A New Prenatal Blood Test for Down Syndrome
- A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome
- A Pilot Study to Evaluate the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea
- A Screening Protocol to Assess Adults and Adolescents With Down Syndrome for Eligibility For Upcoming Study of RG1662 (Study BP27832)
- A Study of ACI-24 in Adults With Down Syndrome
- A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS)
- A Study of RG1662 in Individuals With Down Syndrome
- A Study of RO5186582 in Down Syndrome Among Children 6 to 11 Years of Age
- A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)
- A Study to Compare Blinatumomab Alone to Blinatumomab With Nivolumab in Patients Diagnosed With First Relapse B-Cell Acute Lymphoblastic Leukemia (B-ALL)
- A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD)
- A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic Leukemia
- A Study to Learn More About the Health of Persons With Down Syndrome After Treatment for Acute Leukemia
Drugs in development (16)
- Basmisanil Phase 2
- Bumetanide Phase 2
- Dextrothyroxine Phase 3
- Donepezil hydrochloride Phase 3
- Epigalocatechin gallate Phase 2
- Human immunoglobulin G Phase 2
- Insulin glulisine Phase 1
- Leucovorin Phase 3
- Leucovorin calcium Phase 3
- Lorazepam Phase 2
- Rivastigmine Phase 1
- Sargramostim Phase 2
- Scyllitol Phase 2
- Sodium chloride Phase 1
- Thyroid Phase 3
- Tofacitinib Phase 2