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Flashcards in Down Syndrome Explanation Deck (7):
1

What is downs syndrome?

A congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy (trisomy-21)

2

What causes it?

Are there any risk factors?

Scientists don't know the exact mechanism

Risk Factors
Maternal Age 35+
FHx

3

Epidemiology

1 in 650 - 1000

4

Presentation on examination

Head

Mouth

Hands

Feet

Heart

Other

Floppy - Hypotonia

Head:
- Brachycephaly (flat head)
- Epicanthic folds.
- Ears set low or folded
-Flat nasal bridge.

Mouth:
- Protruding tongue
- small narrow palate
- High arched palate.

Hands:
-Single palmar crease.

Feet:
Gap between hallux and second toes.

AVSD

Duodenal atresia

5

Investigations

-FBC
-Thyroid
- Echo
- SALT
- Ophthalmology
- Annual Check

Echo for Heart Problems

Swallowing Assessment Feeding Problems

Red Reflex for Vision Problems

Blood test for Thyroid Problems

FBC for Blood Problems
leukaemia

Annual Health Check

6

Management

Is there a cure?

What should be done?

No cure unless termination of pregnancy

Education around comorbidities of Downs especially heart problems and slow development

7

Prognosis

What is the prognosis

a median age at death in their mid-50s

leading causes of death in adults with Down's syndrome are respiratory infections and cardiac causes