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Down Syndrome REG Last Edit
Down Syndrome REG Last Edit
BY
UMEONONUGBOR CHINENYE JANE
20 1 in 1,530
30 1 in 900
35 1 in 385
37 1 in 225
40 1 in 109
44 1 in 41
Epidemology
• Previous DS baby (1% risk of conceiving another
baby with DS)
• Women with DS (50% risk)
• Father with DS
• Unclear
EYES
Upward slanting palpebral fissures
Prominent epicanthic folds
Brush field spots apparent in eyelid
White spot in the iris
Clinical features contd.
ENT
Hypoplastic nasal bones
Short nose with depressed nasal bridge
Small, low set ears with adherent earlobes
Short neck
Small oral cavity with protruding tongue
Small teeth with gaps
Hypotonia
Clinical features contd.
EXTREMITY
Transverse palmar crease
Sandal gap
Short fingers
Clinical Presentation
ORGAN MALFORMATION
HEART:
Usually present at birth with congenital heart
defect such as Atrioventricular septal defect
( endocardial cushion defect), ASD,VSD,PDA,TOF.
DIGESTIVE SYSTEM:
Presents with duoduenal atresia/stenosis, annular
pancreas, anal atresia, rectal prolapse,
Hirschsprung disease, megacolon.
Clinical Presentation
UROGENITAL:
Hypogonadism
Impaired spermatogenesis
Decrease fertility
ORTHOPEDIC:
Developmental hip dysplasia
Atlantoaxial dislocation
Clinical Presentation
ENDOCRINE:
Hypothyroidism
Type 1 diabetes
Decrease metabolism
Decrease physical activity
Increase obesity
Clinical manifestation
BEHAVIOURIAL /INTELLECTUAL/ DEVELOPMENT:
• Delayed motor development
• Muscle hypotonia
• Varying intellectual disability(average IQ is 50)
• Delayed developmental milestone(twice the normal age)
• Attention deficit hyperactive disorder
• Conduction disorder
• Early onset Alzhemiers
• Autism spectrum disorder
Clinical manifestation
Increase Risk of Malignancy:
•Acute lymphoblastic leukemia