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DOWN SYNDROME
Dr. Gupta
PL-II
Incidence
Approximately one in
1000 live births.
Genetics
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 Extremities
Brachycephaly Short broad hands
Up-slanting palpebral fissures Short fifth finger
Epicanthal folds
Incurved fifth finger
Brushfield spots
Transverse palmer crease
Flat nasal bridge
Folded or dysplastic ears Space between first and second
Open mouth toe
Protruding tongue Hyper flexibility of joints
Short neck
Excessive skin at the nape of
neck
Neonatal features
Flat facial profile Dysplasia of pelvis
Poor Moro reflex Anomalous ears
Excessive skin at the Dysplasia of
nape of neck midphalanx of fifth
Slanted palpebral finger
fissures Transverse palmer
Hypotonia
crease
Hyper flexibility of
joints
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
VSD
Secundum ASD
PDA
Tetrology of Fallot
Mitral valve prolapse
AR, MR
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
population
Growth
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
hypoglycemia.
Risk of AML and ALL is also much higher than the general
population.
Transient leukemia exclusively affects NB.
- It is asymptomatic with spontaneous resolution in 2-3
months.
- Vesiculopustular skin eruptions are common and resolve
with disorder.
Endocrine disorder