25. • Down syndrome is a genetic disorder caused when
abnormal cell division results in an extra full or partial
copy of chromosome 21
• Trisomy 21
26. features
• Flattened face
• Small head
• Short neck
• Protruding tongue
• Upward slanting eye lids (palpebral fissures)
• Unusually shaped or small ears
• Poor muscle tone
• Broad, short hands with a single crease in the
palm
• Relatively short fingers and small hands and
feet
• Excessive flexibility
• Tiny white spots on the colored part (iris) of
the eye called Brushfield's spots
• Short height
29. ?
• Prader-Willi syndrome is
caused by a genetic defect on
chromosome number 15
• The symptoms of Prader-Willi
syndrome are likely due to
dysfunction of the hypothalamus.
30. symptoms
• Early Life
• hypotonia or “floppy”.
• weak cry and a poor suck reflex
• delayed Motor milestones.
31. • Childhood
• Unregulated appetite and easy
weight gain
• IQs ranging from low normal to
moderate intellectual disability
• growth hormone
deficiency/short stature
• small hands and feet, scoliosis.
32. Case 3
• Fajer 5 years old with weight 23
kg , height 125 cm , Hc 53 cm
39. symptoms
• Tall .
• Disproportionately long arms,
legs and fingers
• A breastbone that protrudes
outward or dips inward
• A high, arched palate and
crowded teeth
• Heart murmurs
• An abnormally curved spine
• Flat feet
40.
41. Case 4
• Fatma 7 years old with
• Weight 25 kg
• Ht 105 cm
47. • Turner syndrome, a condition that affects only
females, results when one of the X chromosomes
(sex chromosomes) is missing or partially missing
48. symptoms
•
Low-set ears
• Broad chest with widely spaced nipples
• Arms that turn outward at the elbows
• Fingernails and toenails that are narrow
and turned upward
• Swelling of the hands and feet,
especially at birth
• Slowed growth
• Cardiac defects
• Low hairline at the back of the head
• Short fingers and toes
49. Case 5
• Mina 6 months old boy with
weight 7 kg , ht 65 cm
• Hc 49 cm
57. symptoms
• Presence of (café-au-lait) on the skin.
• Appearance of two or more neurofibromas (pea-
sized bumps
• freckles under the armpits or in the groin areas.
59. • The mucopolysaccharidoses (MPS) are lysosomal
storage disorders
• All of the MPS are autosomal recessive disorders,
with the exception of MPS II, which is X linked.
60. symptoms
• Hepatosplenomegaly
• Corneal clouding
• Cardiac involvement, valve disease
• Skeletal dysplasia
• Growth delay
• Profound neurological involvement (in the severe form
only)
• Macrocephaly
61. CASE 6
• ALI 1.5 YEARS OLD BOY
• WEIGHT 13 KG
• HEIGHT 85 CM
• HC 45 CM