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Complete trisomy 21 syndrome(DS)

MedGen UID:
4385
Concept ID:
C0013080
Congenital Abnormality
Synonyms: Down syndrome; DS
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
SNOMED CT: T21 - Trisomy 21 (41040004); Downs syndrome (41040004); Complete trisomy 21 syndrome (41040004); Down syndrome (41040004)
 
Gene (location): GATA1 (Xp11.23)
OMIM®: 190685

Definition

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

Additional description

From GHR
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. People with Down syndrome may have a variety of birth defects. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common. Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia). Delayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals' speech and language develop later and more slowly than in children without Down syndrome, and affected individuals' speech may be more difficult to understand. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome usually develop this condition in their fifties or sixties.  http://ghr.nlm.nih.gov/condition/down-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Myeloproliferative disorder
MedGen UID:
505828
Concept ID:
CN004913
Finding
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Acute megakaryocytic leukemia
MedGen UID:
505962
Concept ID:
CN005861
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Thickened nuchal skin fold
MedGen UID:
324644
Concept ID:
C1836940
Finding
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Protruding tongue
MedGen UID:
451135
Concept ID:
CN116542
Finding
Tongue extending beyond the alveolar ridges or teeth at rest.
Brushfield spots
MedGen UID:
266270
Concept ID:
C1303007
Finding
Microtia
MedGen UID:
351220
Concept ID:
C1864797
Finding
Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Alzheimer disease
MedGen UID:
505259
Concept ID:
CN002282
Finding
A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Finding
Shallow acetabular fossae
MedGen UID:
344384
Concept ID:
C1854910
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Hypoplastic iliac wing
MedGen UID:
350044
Concept ID:
C1861530
Finding
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Atlantoaxial instability
MedGen UID:
505543
Concept ID:
CN003127
Finding
Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Thickened nuchal skin fold
MedGen UID:
324644
Concept ID:
C1836940
Finding
Duodenal stenosis
MedGen UID:
348189
Concept ID:
C1860791
Finding
Anal atresia
MedGen UID:
505058
Concept ID:
CN001831
Finding
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Single transverse palmar crease
MedGen UID:
362624
Concept ID:
C1873502
Finding
Complete atrioventricular canal defect
MedGen UID:
504903
Concept ID:
CN001523
Finding
A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Myeloproliferative disorder
MedGen UID:
505828
Concept ID:
CN004913
Finding
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Acute megakaryocytic leukemia
MedGen UID:
505962
Concept ID:
CN005861
Finding
Myeloproliferative disorder
MedGen UID:
505828
Concept ID:
CN004913
Finding
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Acute megakaryocytic leukemia
MedGen UID:
505962
Concept ID:
CN005861
Finding
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Finding
Shallow acetabular fossae
MedGen UID:
344384
Concept ID:
C1854910
Finding
Single transverse palmar crease
MedGen UID:
362624
Concept ID:
C1873502
Finding
Broad palm
MedGen UID:
504753
Concept ID:
CN001097
Finding
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.

Professional guidelines

PubMed

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC
Eur J Hum Genet 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669
Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P
J Genet Couns 2013 Jun;22(3):291-5. Epub 2013 Jan 22 doi: 10.1007/s10897-012-9564-0. [Epub ahead of print] PMID: 23334531
Benn P, Borrell A, Cuckle H, Dugoff L, Gross S, Johnson JA, Maymon R, Odibo A, Schielen P, Spencer K, Wright D, Yaron Y
Prenat Diagn 2012 Jan;32(1):1-2. Epub 2012 Jan 24 doi: 10.1002/pd.2919. [Epub ahead of print] PMID: 22275335
Bull MJ; Committee on Genetics
Pediatrics 2011 Aug;128(2):393-406. Epub 2011 Jul 25 doi: 10.1542/peds.2011-1605. [Epub ahead of print] PMID: 21788214
Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, Masser-Frye D, Brookshire GS, Carre AM, Lagrave D, Brasington CK
J Genet Couns 2011 Oct;20(5):432-41. Epub 2011 May 27 doi: 10.1007/s10897-011-9375-8. [Epub ahead of print] PMID: 21618060
Driscoll DA, Gross SJ; Professional Practice Guidelines Committee
Genet Med 2009 Nov;11(11):818-21. doi: 10.1097/GIM.0b013e3181bb267b. PMID: 19915395Free PMC Article
Driscoll DA, Gross SJ; Professional Practice and Guidelines Committee
Genet Med 2008 Jan;10(1):73-5. doi: 10.1097/GIM.0b013e31815efde8. PMID: 18197059Free PMC Article
American College of Obstetricians and Gynecologists
Obstet Gynecol 2007 Dec;110(6):1459-67. doi: 10.1097/01.AOG.0000291570.63450.44. PMID: 18055749
ACOG Committee on Practice Bulletins
Obstet Gynecol 2007 Jan;109(1):217-27. PMID: 17197615
Shaffer LG; American College of Medical Genetics Professional Practice and Guidelines Committee
Genet Med 2005 Nov-Dec;7(9):650-4. doi: 10.109701.gim.0000186545.83160.1e. PMID: 16301868Free PMC Article

External

Sequencing-Based Tests to Determine Fetal Down Syndrome (Trisomy 21) from Maternal Plasma DNA

Recent clinical studies

Etiology

McGowan S, Jones J, McMillan D, McLaughlin K, Smith S, Leyland K, Charleton P, Donaldson M; Scottish Down Syndrome Screening Group
J Pediatr 2015 Apr;166(4):1013-1017.e2. Epub 2015 Jan 31 doi: 10.1016/j.jpeds.2014.12.035. [Epub ahead of print] PMID: 25648292
Stagliano DR, Nylund CM, Eide MB, Eberly MD
J Pediatr 2015 Mar;166(3):703-9.e2. Epub 2015 Jan 13 doi: 10.1016/j.jpeds.2014.11.058. [Epub ahead of print] PMID: 25596098
Verstegen RH, Driessen GJ, Bartol SJ, van Noesel CJ, Boon L, van der Burg M, van Dongen JJ, de Vries E, van Zelm MC
J Allergy Clin Immunol 2014 Dec;134(6):1346-1353.e9. Epub 2014 Aug 23 doi: 10.1016/j.jaci.2014.07.015. [Epub ahead of print] PMID: 25159464
Hartley SL, Handen BL, Devenny DA, Hardison R, Mihaila I, Price JC, Cohen AD, Klunk WE, Mailick MR, Johnson SC, Christian BT
Brain 2014 Sep;137(Pt 9):2556-63. Epub 2014 Jul 2 doi: 10.1093/brain/awu173. [Epub ahead of print] PMID: 24993958Free PMC Article
Salami F, Vimercati SL, Rigoldi C, Taebi A, Albertini G, Galli M
Res Dev Disabil 2014 Aug;35(8):1856-62. Epub 2014 Apr 30 doi: 10.1016/j.ridd.2014.04.012. [Epub ahead of print] PMID: 24794319

Diagnosis

McGowan S, Jones J, McMillan D, McLaughlin K, Smith S, Leyland K, Charleton P, Donaldson M; Scottish Down Syndrome Screening Group
J Pediatr 2015 Apr;166(4):1013-1017.e2. Epub 2015 Jan 31 doi: 10.1016/j.jpeds.2014.12.035. [Epub ahead of print] PMID: 25648292
Stagliano DR, Nylund CM, Eide MB, Eberly MD
J Pediatr 2015 Mar;166(3):703-9.e2. Epub 2015 Jan 13 doi: 10.1016/j.jpeds.2014.11.058. [Epub ahead of print] PMID: 25596098
Ternby E, Ingvoldstad C, Annerén G, Lindgren P, Axelsson O
Acta Obstet Gynecol Scand 2015 Mar;94(3):329-32. Epub 2015 Jan 12 doi: 10.1111/aogs.12560. [Epub ahead of print] PMID: 25582972
Skjøth MM, Draborg E, Pedersen CD, Hansen HP, Lamont RF, Jørgensen JS
Acta Obstet Gynecol Scand 2015 Feb;94(2):125-32. Epub 2014 Dec 11 doi: 10.1111/aogs.12543. [Epub ahead of print] PMID: 25412186
Kellogg G, Slattery L, Hudgins L, Ormond K
J Genet Couns 2014 Oct;23(5):805-13. Epub 2014 Feb 1 doi: 10.1007/s10897-014-9694-7. [Epub ahead of print] PMID: 24481673Free PMC Article

Therapy

Stagliano DR, Nylund CM, Eide MB, Eberly MD
J Pediatr 2015 Mar;166(3):703-9.e2. Epub 2015 Jan 13 doi: 10.1016/j.jpeds.2014.11.058. [Epub ahead of print] PMID: 25596098
Carsetti R, Valentini D, Marcellini V, Scarsella M, Marasco E, Giustini F, Bartuli A, Villani A, Ugazio AG
Eur J Immunol 2015 Mar;45(3):903-14. Epub 2014 Dec 28 doi: 10.1002/eji.201445049. [Epub ahead of print] PMID: 25472482
Skjøth MM, Draborg E, Pedersen CD, Hansen HP, Lamont RF, Jørgensen JS
Acta Obstet Gynecol Scand 2015 Feb;94(2):125-32. Epub 2014 Dec 11 doi: 10.1111/aogs.12543. [Epub ahead of print] PMID: 25412186
Fortnum H, Leighton P, Smith MD, Brown L, Jones M, Benton C, Marder E, Marshall A, Sutton K
Health Technol Assess 2014 Sep;18(60):1-147, v-vi. doi: 10.3310/hta18600. PMID: 25270051
Hartley SL, Handen BL, Devenny DA, Hardison R, Mihaila I, Price JC, Cohen AD, Klunk WE, Mailick MR, Johnson SC, Christian BT
Brain 2014 Sep;137(Pt 9):2556-63. Epub 2014 Jul 2 doi: 10.1093/brain/awu173. [Epub ahead of print] PMID: 24993958Free PMC Article

Prognosis

McGowan S, Jones J, McMillan D, McLaughlin K, Smith S, Leyland K, Charleton P, Donaldson M; Scottish Down Syndrome Screening Group
J Pediatr 2015 Apr;166(4):1013-1017.e2. Epub 2015 Jan 31 doi: 10.1016/j.jpeds.2014.12.035. [Epub ahead of print] PMID: 25648292
Stagliano DR, Nylund CM, Eide MB, Eberly MD
J Pediatr 2015 Mar;166(3):703-9.e2. Epub 2015 Jan 13 doi: 10.1016/j.jpeds.2014.11.058. [Epub ahead of print] PMID: 25596098
Goto H, Kaneko T, Shioda Y, Kajiwara M, Sakashita K, Kitoh T, Hayakawa A, Miki M, Kato K, Ogawa A, Hashii Y, Inukai T, Kato C, Sakamaki H, Yabe H, Suzuki R, Kato K
Pediatr Blood Cancer 2015 Jan;62(1):148-52. Epub 2014 Sep 27 doi: 10.1002/pbc.25245. [Epub ahead of print] PMID: 25262825
Amanatullah DF, Rachala SR, Trousdale RT, Sierra RJ
Bone Joint J 2014 Nov;96-B(11):1455-8. doi: 10.1302/0301-620X.96B11.34089. PMID: 25371456
Paulson LM, Weaver TS, Macarthur CJ
Int J Pediatr Otorhinolaryngol 2014 Feb;78(2):223-6. Epub 2013 Nov 21 doi: 10.1016/j.ijporl.2013.10.062. [Epub ahead of print] PMID: 24321289

Clinical prediction guides

McGowan S, Jones J, McMillan D, McLaughlin K, Smith S, Leyland K, Charleton P, Donaldson M; Scottish Down Syndrome Screening Group
J Pediatr 2015 Apr;166(4):1013-1017.e2. Epub 2015 Jan 31 doi: 10.1016/j.jpeds.2014.12.035. [Epub ahead of print] PMID: 25648292
Verstegen RH, Driessen GJ, Bartol SJ, van Noesel CJ, Boon L, van der Burg M, van Dongen JJ, de Vries E, van Zelm MC
J Allergy Clin Immunol 2014 Dec;134(6):1346-1353.e9. Epub 2014 Aug 23 doi: 10.1016/j.jaci.2014.07.015. [Epub ahead of print] PMID: 25159464
Hartley SL, Handen BL, Devenny DA, Hardison R, Mihaila I, Price JC, Cohen AD, Klunk WE, Mailick MR, Johnson SC, Christian BT
Brain 2014 Sep;137(Pt 9):2556-63. Epub 2014 Jul 2 doi: 10.1093/brain/awu173. [Epub ahead of print] PMID: 24993958Free PMC Article
Lin SC, Davey MJ, Horne RS, Nixon GM
J Pediatr 2014 Jul;165(1):117-22. Epub 2014 Mar 25 doi: 10.1016/j.jpeds.2014.02.032. [Epub ahead of print] PMID: 24679609
Porter HL, Grantham DW, Ashmead DH, Tharpe AM
Ear Hear 2014 Jul-Aug;35(4):e134-42. doi: 10.1097/AUD.0000000000000026. PMID: 24535557

Recent systematic reviews

Skjøth MM, Draborg E, Pedersen CD, Hansen HP, Lamont RF, Jørgensen JS
Acta Obstet Gynecol Scand 2015 Feb;94(2):125-32. Epub 2014 Dec 11 doi: 10.1111/aogs.12543. [Epub ahead of print] PMID: 25412186
Fortnum H, Leighton P, Smith MD, Brown L, Jones M, Benton C, Marder E, Marshall A, Sutton K
Health Technol Assess 2014 Sep;18(60):1-147, v-vi. doi: 10.3310/hta18600. PMID: 25270051
Seron BB, Greguol M
Res Dev Disabil 2014 Mar;35(3):676-85. Epub 2014 Jan 7 doi: 10.1016/j.ridd.2013.12.008. [Epub ahead of print] PMID: 24411274
Bertapelli F, Martin JE, Gonçalves EM, de Oliveira Barbeta VJ, Guerra-Júnior G
Am J Med Genet A 2014 Mar;164A(3):844-7. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36337. [Epub ahead of print] PMID: 24357551
Moreno-Cid M, Rubio-Lorente A, Rodríguez MJ, Bueno-Pacheco G, Tenías JM, Román-Ortiz C, Arias Á
Ultrasound Obstet Gynecol 2014 Mar;43(3):247-53. doi: 10.1002/uog.13228. PMID: 24151178

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