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Dr. Gupta


Approximately one in
1000 live births.

Trisomy 21 (47, +21), - 94 %, The
frequency of trisomy increases with
increasing maternal age.
Robertsonian translocation involving
chromosome 21- Approx. 3-4 %, not
related to maternal age.
Trisomy 21 mosaicism 2 to 3 % cases

Clinical Features
Head and neck

Up-slanting palpebral fissures
Epicanthal folds
Brushfield spots
Flat nasal bridge
Folded or dysplastic ears
Open mouth
Protruding tongue
Short neck
Excessive skin at the nape of


Short broad hands

Short fifth finger
Incurved fifth finger
Transverse palmer crease
Space between first and second
Hyper flexibility of joints

Neonatal features
Flat facial profile
Poor Moro reflex
Excessive skin at the
nape of neck
Slanted palpebral
Hyper flexibility of

Dysplasia of pelvis
Anomalous ears
Dysplasia of
midphalanx of fifth
Transverse palmer

Mental Retardation

Almost all DS babies have MR.

Mildly to moderately retarded .
Starts in the first year of life.
Average age of sitting(11 mon), and walking (26
mon) is twice the typical age.
First words at 18 months.
IQ declines through the first 10 years of age,
reaching a plateau in adolescence that continues
into adulthood.

Heart Disease

50 % of Down Syndrome pts have heart disease

Atrioventricular septal defect
Secundum ASD
Tetrology of Fallot
Mitral valve prolapse

GI abnormalities
5% of cases
Duodenal atresia or stenosis, sometimes assoc
with annular pancreas in 2.5 % of cases
Imperforate anus
Esophageal atresia with TE fistula is less common
Hirschsprungs disease
Strong assoc with celiac disease b/w 5 16 % , 5
16 fold increase as compared to general

BW, length and HC are less in DS
Reduced growth rate
Prevalence of obesity is greater in DS
Weight is less than expected for length in
infants with DS, and then increases
disproportion ally so that they are obese by
age 3-4 yrs

Eye problems
Most common disorders are
Refractory error 35 to 76 percent
Strabismus 25 to 57 percent
Nystagmus 18 to 22 percent
Cataract occur in 5 % of newborns.
Frequency increases with age.

Hearing loss
Unilateral or bilateral
Conductive, sensorineural or mixed
Otitis media is a frequent problem

Hematologic disorders
The risk of leukemia is 1 to 1.5 percent.
65% of newborn have polycythemia resulting in
Risk of AML and ALL is also much higher than the general
Transient leukemia exclusively affects NB.
- It is asymptomatic with spontaneous resolution in 2-3
- Vesiculopustular skin eruptions are common and resolve
with disorder.

Endocrine disorder
Thyroid disease Hypothyroidism occurs
more frequently than hyperthyroidism.
Diabetes The risk of type 1 diabetes is
three times greater than that of the general

Women with DS are fertile and may become
Nearly all males with DS are infertile. The
mechanism is impairment of

Atlantoaxial instability
Excessive mobility of atlas (C1) and the
axis (C2), may lead to subluxation of the
cervical spine.
Diagnosis made by lateral neck radiograph.
Patients are advised to avoid contact

Sleep apnea
Obstructive sleep apnea is more common.

Skin disorder
Palmoplantar hyperkeratosis
Seborreic dermatitis
Fissured tongue
Cutis marmorata
Geographical tongue

Prenatal screening
If no screening It is recognized from the
characteristic phenotypic features.
Confirmed by Karyotype.

1. Growth Measurements should be plotted on the
appropriate growth chart for children with DS.
This will help in prevention of obesity and early diagnosis
of celiac disease and hypothyroidism.
2. Cardiac disease All newborns should be evaluated by
cardiac ECHO for CHD in consultation with pediatric
3. Hearing Screening to be done in the newborn period,
every 6 months until 3 yrs of age and then annually.

Management (cont.)
4. Eye disorders - An eye exam should be performed
in the newborn period or at least before 6 months
of age to detect strabismus, nystagmus, and
5. Thyroid Function Should be done in newborn
period and should be repeated at six and 12
months , and then annually.
6. Celiac Disease Screening should begin at 2 yrs.
Repeat screening if signs/Sx develop.

Management ( cont)
7. Hematology CBC with differential at birth to
evaluate for polycythemia as well as WBC.
8. Atlanto-axial instability X ray for evidence of
AAI or sub-luxation at 3 to 5 years of age.
9. Alzheimers disease Adult with a Down
Syndrome has earlier onset of symptoms. When
diagnosis is considered, thyroid disease and
possible depression should be excluded.

Median age of death has increased from 25 yrs
in 1983 to 49 yrs in 1997, an average of 1.7 yrs
increase per year.
Most likely cause of death is CHD, Dementia,
Hypothyroidism and Leukemia.
Improved survival is because of increased
placements of infants in homes and
changes in treatment for common causes of
Survival is better for males and blacks.

May begin when a prenatal diagnosis is made.
Discuss the wide range of variability in
manifestation and prognosis.
Medical and educational treatments and
interventions should be discussed.
Initial referrals for early intervention, informative
publications, parent groups, and advocacy