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International Birth Defects Information Systems
Down Syndrome - Trisomy 21

International Birth Defects Information Systems

Down Syndrome - Trisomy 21

Topics: | Down Syndrome | Trisomy 21 | 21+ | Langdon Down Syndrome | Screening | Prenatal - Amniocentesis | Nuchal Translucency | Controversies | Education & Social Issues | Support Groups | Publications |

Related Topics : | Disabilities | Birth Defects |

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Fine Arts : Down Syndrome (A) (B)

Down Syndrome. Click to see details
Down Syndrome. Click to see details
See our Resources in or Birth Defects Help
Notes per Visitors  
Down Syndrome is one of the most common forms of mental retardation. It is most often due to an extra chromosome 21 resulting in Trisomy 21. In younger mothers, a Down syndrome child may be due to a chromosomal defect that may be inherited from either parent. Older women are more likely to have a child with a chromosomal trisomy such as trisomy 21, trisomy 18, trisomy 13 and other type of anomalies which are not inherited, but often associated with advanced maternal age. For this reason women approaching 35 years of age should know that planning a pregnancy may also call for prenatal studies.

Early care of Down syndrome children is very important. Early stimulation also helps Down syndrome children develop more fully. After having a Down syndrome child, even if it is the only occurance in the family, the risk of having another is increased. For these reasons our team recommends:

  • All babies with Down syndrome should have a chromosome study Consultation with a clinical geneticist. A clinical geneticist along with the pediatrician implement anticipatory health care strategies to optimize the development and health of a Down syndrome child.
  • Prenatal studies of pregnancies subsequent to the birth of a Down syndrome child.
Birth Defects Center W.Wertelecki, M.D. Updated: May 2004

Health Supervision for Children With Down Syndrome
Committee on Genetics, American Academy of Pediatrics, August 2011
Visitor Comments [for Professionals mainly]
These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype ... eight pages ... Among the more common physical features are hypotonia, small brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly. A wide space, often with a deep fissure between the first and second toes, is also common. The degree of mental impairment is variable, ranging from mild (IQ: 50-70) to moderate (IQ: 35-50) ... obstructive sleep apnea (50%-75%); and thyroid disease (15%). The social quotient may be improved with early intervention techniques, although the level of function is exceedingly variable...In approximately 95% of children with Down syndrome ... nonfamilial trisomy 21 ... 3% to 4% ... extra chromosomal material ... Medical management, home environment, education, and vocational training can significantly affect the level of functioning ... Pediatricians may be asked to counsel a family...FROM BIRTH TO 1 MONTH...FROM 1 MONTH TO 1 YEAR ... FROM 1 YEAR TO 5 YEARS ... FROM 5 YEARS TO 13 YEARS .. .FROM 13 YEARS TO 21 YEARS ...

Visitor Comments [for Professionals mainly]
Comprehensive clinical, cytogenetic, pathogenesis ... an authoritative source.

The story of Down Syndrome - Trisomy 21
L. Leshin, M.D. F.A.A.P. , 2003
Visitor Comments [for Professionals mainly]
and a list of well selected Down Syndrome related links

Atlantoaxial Instability in Down Syndrome
American Academy of Pediatrics, July 1995
Visitor Comments [for Professionals mainly]
AAI, also called atlantoaxial subluxation, denotes increased mobility at the articulation of the first and second cervical vertebrae (atlantoaxial joint)...The causes of AAI are not well understood ... In its mildest form, AAI is asymptomatic and is diagnosed using radiography ... Approximately 15% of individuals in the pediatric age group (<21 years old) who have Down syndrome also have AAI.[2] Almost all of the persons affected are asymptomatic ... of symptomatic AAI include easy fatiguability, difficulties in walking, abnormal gait, neck pain, limited neck mobility, torticollis or head tilt, in-coordination and clumsiness, sensory deficits, spasticity, hyperreflexia, clonus, extensor-plantar reflex, and other upper motor neuron and posterior column signs and symptoms ... For this or any screening program to be worthwhile ... In the pediatric age group, only 41 well-documented cases have been described in the published literature ... Asymptomatic AAI, which is common, has not been proven to be a significant risk factor for symptomatic AAI ... Arguments against screening include the rarity of symptomatic AAI, inaccuracy in the screening test, the possibility that patients with abnormal radiographs initially will have normal radiographs later on ... One study found that children with Down syndrome and asymptomatic AAI who were allowed to play all sports had no serious spinal cord injuries or evidence of neurologic deterioration ...

National Down Syndrome Society
National Down Syndrome Society
Visitor Comments [Support Groups]
A nicely organized general medical information site ... It provides position statements regarding vitamins, Piracetam, Endrocrine conditions, Alzheimer's, Sexuality, Neurologic deficits and more.

Down Syndrome - Head Circumference Charts
Greg Richards , Growth Charts for Children with Down Syndrome, August 28, 2001

Down Syndrome Fact Sheet for Professionals in Ukrainian
I.B.I.S. Birth Defects, 2005
Visitor Comments [Ukrainian]
Main diagnostic criteria ... Clinical picture ... Diagnosis ... Prenatal diagnosis ... Etiology ... Prognosis ... Treatment

Down Syndrome Charts and Tables in Ukrainian
IBIS Birth Defects, June 12, 2002
Visitor Comments [Ukrainian]
Translation of "Growth References: Third Trimester to Adulthood" book compiled by Robert A. Saul, MD, Joseph S. Geer, MD, Laurie H. Seaver, MD, Mary C. Phelan, PhD, Kevin M. Sweet, MS, Carolyn M. Mills, MS (Greenwood Genetic Center)
... Height, Males, 0-36 Months ... Height, Males, 2-18 Years ... Height, Females, 0-36 Months ... Height, Females, 2-18 Years ... Head Circumference ... Ear Length ... Development

Observation on an Ethnic Classification of Idiots (Classic Paper)
An article by J. Langdon H. Down, M.D., London.
Visitor Comments [for Professionals mainly]
Those who have given any attention to congenital mental lesions, must have been frequently puzzled how to arrange, in any satisfactory way, the different classes of this defect which may have come under their observation

Prenatal - Amniocentesis - Screening - AFP - MSAFP

Down Syndrome - Endocrine Conditions
National Down Syndrome Society
Visitor Comments [Support Groups]
Individuals with Down syndrome are more likely to have endocrine problems than the general population. The endocrine system is a set of glands in the body including the thyroid, adrenal, and pituitary glands.

Down Syndrome - Sexuality
National Down Syndrome Society
Visitor Comments [Support Groups]

Prenatal Testing for Down Syndrome
L. Leshin M.D. 2007
A crisp, compact (4 page) review

Nuchal Translucency

Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy
K H Nicolaides, G Azar, D Byrne, C Mansur, K Marks; PubMed.

Trissomia do Cromossomo 9 Associada com Aumento da Translucência Nucal (Download PDF)
Carlos Geraldo Viana Murta and Paulo Roberto Mercon-de-Vargas, Radiologia Brasileira, Volume 34 (#2), March-April 2001
Visitor Comments [for Professionals mainly] [Portuguese]
... Relatamos um caso de trissomia completa do cromossomo 9 associada com aumento da translucencia nucal (9,1 mm), diagnosticada por ultra-som na 12a semana de gestacao e confirmada por cariotipo em especime de biopsia do vilo corial. Multiplas anomalias congenitas foram diagnosticadas no exame ultra-sonografico e confirmadas na autopsia. Embora rara, a trissomia 9 deve ser incluida no rol das anomalias cromossomicas associadas com aumento da translucencia nucal ... Unitermos: Trissomia 9. Patologia. Ultra-sonografia pre-natal. Translucencia nucal. Anomalias cromossomicas ...

Nuchal Translucency
A. P. Souka, Archives of Hellenic Medicine, 17(5), September-October 2000, 463-476
The 11–14 week scan offers the opportunity for early assessment of risk of chromosomal abnormality by measuring nuchal translucency and enables the early diagnosis of major structural defects ...

Nuchal Translucency
Nederlandse Vereniging voor Obstetrie en Gynaecologie, January 2000
Visitor Comments [Dutch]
De meest gebruikelijke indicaties voor invasieve prenatale diagnostiek zijn: a een gevorderde maternale leeftijd (36 jaar of ouder), b een belaste (familie-)anamnese, c een afwijkende testuitslag bij serumscreening. Deze indicaties zijn gebaseerd op de verhoogde kans dat een zwangere een kind met het syndroom van Down of een andere chromosomale afwijking krijgt. Deze kans kan ook worden geschat door echoscopische meting van de nuchal translucency vroeg in de zwangerschap. NT. De NT bij chromosomaal normale foetussen is vooral afhankelijk van de zwangerschapsduur en bereikt zijn maximum rond 13 weken. De mediane NT-diameter neemt toe van 0,7 mm bij 70 dagen tot 1,7 mm bij 91 dagen en daalt naar 1,0 bij 105 dagen zwangerschapsduur. Indien het foetale chromosomenpatroon normaal is blijkt de dikte van de NT gerelateerd te zijn aan een toegenomen risico op een miskraam ...


Cell Therapy and Down Syndrome as seen by a specialized physician
S. Pueschel, M.D.
"Sicca cell treatment, also known as cell, dry cell, or fetal cell therapy, was introduced in the 1930s ... there is no evidence that sicca cell therapy has any beneficial effects ..."

Amino Acid Profiles and Down Syndrome
L. Leshin, M.D., 1996
"Many parents ... are hearing about nutritional supplement packages ... no differences ... (to) justified dietary supplementation"

"Obstructive Sleep Apnea and DS"
L. Leshin, M.D., 2003

Social Issues

Education Information on Down Syndrome
National Down Syndrome Society
Visitor Comments [Support Groups]
Nicely organized site, includes some terms explained (IEP, LRE, ...) and a comprehensive listing of organizations, newsletters and bulletins relating to special education .

If you are seeking basic information about people with Down Syndrome
Down Syndrome Association, UK
Visitor Comments [Support Groups]

"The Down Syndrome Educational Trust"
Down Syndrome Education International and Down Syndrome Education USA (DSE) are internationally-recognized charities dedicated to raising levels of educational achievement among children with Down syndrome. We have been at the forefront of developmental and educational research and evidence-based services improving outcomes for children with Down syndrome for over 30 years.
Visitor Comments [Support Groups]

Down Syndrome
I.B.I.S. Birth Defects, February 14, 2003
Visitor Comments [Ukrainian]
Fact Sheet for Parents in Ukrainian

Advices for Parents of Down Syndrome children
I.B.I.S. Birth Defects, June 12, 2002
Visitor Comments [Ukrainian]
Fact Sheet for Parents in Ukrainian

Publications - Journals

Down Syndrome Resource Foundation
Their mission is to support people living with Down syndrome and their families with individualized and leading-edge educational programs, health services, information resources, and rich social connections so each person can flourish in their own right.


Last Updated: 2023/03/08


American Medical Association