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Common Syndromes and their Recognition Flashcards

1
Q

What is the genetic basis of Down Syndrome?

A

Trisomy 21
Mostly nondisjunction (translocation and mosaicism)
Prevalence 1 per 660

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2
Q

List the clinical features of Down Syndrome

A
  1. Oblique (upslanted) palpebral fissures
  2. Single transverse palmar crease
  3. Hypotonia
  4. Round face and flat nasal bridge
  5. Epicanthic folds
  6. Brushfield spots in iris
  7. Small mouth and protruding tongue
  8. Small ears
  9. Flat occiput and third fontanelle
  10. Short neck
  11. ‘Sandal gap’ between first and second toe
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3
Q

Describe the prognosis in Down Syndrome

A

IQ 20-55
Gap to normal widens through childhood
Most survive to middle age then decline due to Alzheimers

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4
Q

What medical conditions are associated with Down Syndrome?

A
  1. 40% have congenital heart disease, esp VSD and AVSD
  2. Hypothyroidism
  3. Alzheimer’s
  4. Glue ear
  5. Atlantoaxial instability
  6. Delayed motor milestones
  7. Short stature
  8. Visual impairment from cataracts, squint, myopia
  9. Increased risk of leukaemia and solid tumours
  10. Obstructive sleep apnoea
  11. Epilepsy
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5
Q

What is the genetic basis of Patau Syndrome?

A

Trisomy 13

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6
Q

List the clinical features of Patau Syndrome

A
  1. Cleft palate
  2. Polydactyly
  3. Cardiac defects
  4. Eye defects (microphthalmia)
  5. Structural defect of brain and scalp defects
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7
Q

Describe the prognosis in Patau Syndrome

A

Almost all die by age 3

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8
Q

What medical conditions are associated with Patau Syndrome?

A
  1. Cardiac and renal problems
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9
Q

What is the genetic basis of Edwards Syndrome?

A

Trisomy 18

More common in females

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10
Q

List the clinical features of Edwards Syndrome

A
  1. Small chin
  2. Cardiac abnormalities
  3. Prominent occiput
  4. Flexed, overlapping fingers
  5. Rocker-bottom’ feet
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11
Q

Describe the prognosis of Edwards Syndrome

A

Half die by 2mths

Severe LD

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12
Q

What medical conditions are associated with Edwards Syndrome?

A
  1. Cardiac and renal problems
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13
Q

What is the genetic basis of Fragile X Syndrome?

A

X-linked
Trinucleotide repeat expansion
Anticipation

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14
Q

List the clinical features of Fragile X Syndrome

A
  1. Prominent ears
  2. High arched palate
  3. Macro-orchidism
  4. Macrocephaly
  5. Characteristic facies - long face, prominent mandible, broad forehead
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15
Q

Describe the prognosis in Fragile X Syndrome

A 
Speech impairment
Autism in up to 50%
Impulsive
Shy
Severe LD
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16
Q

What medical conditions are associated with Fragile X Syndrome?

A
  1. Mitral valve prolapse
  2. Epilepsy
  3. Scoliosis
  4. Joint laxity
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17
Q

What is the genetic basis of Prader-Willi Syndrome?

A

Lack of paternal 15q

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18
Q

List the clinical features of Prader-Willi Syndrome

A
  1. Obesity
  2. Hypogonadism
  3. Hypotonia
  4. Violent temper
  5. Sleep apnoea
  6. Neonatal feeding difficulties
  7. Faltering growth in infancy
  8. Learning difficulties
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19
Q

Describe the prognosis of Prader-Willi Syndrome

A

Mild LD

Expressive language disorder

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20
Q

What medical conditions are associated with Prader-Willi Syndrome?

A
  1. Late onset diabetes

2. Psychiatric - e.g. OCD, anxiety

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21
Q

What is the genetic basis of Angelman Syndrome?

A

Lack of maternal 15q

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22
Q

List the clinical features of Angelman Syndrome

A
  1. Microcephaly

2. Ataxic, jerky movements

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23
Q

Describe the prognosis of Angelman Syndrome

A

Severe LD

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24
Q

What medical conditions are associated with Angelman Syndrome?

A
  1. Epilepsy

2. GI conditions

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25
Q

What is the genetic basis of Cri-du-Chat syndrome?

A

5p deletion

26
Q

List the clinical features of Cri-du-Chat syndrome

A
  1. Round flat face
  2. Hypertelorism (abnormal large distance between two organs)
  3. Micrognathia
  4. Characteristic cry like mewling of a cat
27
Q

Describe the prognosis of Cri-du-Chat syndrome

28
Q

What medical conditions are associated with Cri-du-Chat syndrome?

29
Q

What is the genetic basis of Klinefelter Syndrome?

30
Q

List the clinical features of Klinefelter Syndrome

A
  1. Infertility
  2. Hypogonadism with small testes
  3. Pubertal development may appear normal
  4. Gynaecomastia in adolescence
  5. Tall stature
  6. Intelligence usually normal range
31
Q

Describe the prognosis of Klinefelter Syndrome

A

May have LD

32
Q

What medical conditions are associated with Klinefelter Syndrome?

33
Q

What is the genetic basis of Turner Syndrome?

34
Q

List the clinical features of Turner Syndrome

A
  1. Spoon shaped nails
  2. Short stature (cardinal feature)
  3. Neck webbing or thick neck
  4. Wide carrying angle
  5. Widely spaced nipples
  6. Delayed puberty
  7. Ovarian dysgenesis
35
Q

What medical conditions are associated with Turner Syndrome?

A
  1. Congenital heart defects - aortic valve stenosis, coarctation of the aorta
  2. Infertility
  3. Hypothyroidism
  4. Renal anomalies
  5. Pigmented moles
  6. Recurrent otitis media
36
Q

What is the genetic basis of Tuberous Sclerosis?

A

AD often spontaneous mutation of TSC1 or TSC2 genes

37
Q

List the clinical features of Tuberous Sclerosis

A
  1. Multiple hamartomas
  2. Infantile spasms
  3. Aggression and self injury
38
Q

Describe the prognosis of Tuberous Sclerosis

A

Hyperkinetic
Autistic traits
Severe LD in some cases

39
Q

What medical conditions are associated with Tuberous Sclerosis?

A
  1. Infantile spasms
  2. Epilepsy
  3. Hamartomas
40
Q

What is the genetic basis of Neurofibromatosis?

A

AD inheritance of mutation in NF1 or NF2 gene

41
Q

List the clinical features of Neurofibromatosis

A
  1. Neurofibromata
  2. Café-au-lait spots
  3. Axillary freckling
  4. Optic glioma
  5. Lisch nodule seen on slit lamp examination
  6. Bony lesions from sphenoid dysplasia
  7. First degree relative with NF1
    (NF2 - bilateral acoustic neuroma are predominant feature)
42
Q

Describe the prognosis of Neurofibromatosis

A

10% severe LD

43
Q

What are the medical conditions associated with Neurofibromatosis?

A
  1. Sarcomatous change of the benign tumours
44
Q

What is the genetic basis of PKU?

A

AR

Phenylalanine hydroxylase deficiency

45
Q

Describe the prognosis with PKU

A

Microcephalic mental impairment
Autism
Epilepsy

46
Q

What is the genetic basis of Lesch-Nyan Syndrome?

A

X-linked recessive

Uric acid metabolism

47
Q

List the clinical features of Lesch-Nyan Syndrome

A
  1. Hypotonia
  2. Dysphagia
  3. Growth retardation
48
Q

Describe the prognosis of Lesch-Nyan Syndrome

A

Normal development in infancy
Moderate LD
Death in 20s from resp or renal failure

49
Q

What medical conditions are associated with Lesch-Nyan Syndrome?

50
Q

What is the genetic basis of Rett Syndrome?

A

X-linked dominant

51
Q

List the clinical features of Rett Syndrome

A
  1. Fits
  2. Agitation
  3. Truncal ataxia
  4. Depression
52
Q

Describe the prognosis of Rett Syndrome

A

Normal development for first year then lose speech, mobility, etc.

53
Q

What is the genetic basis of DiGeorge Syndrome?

A

22q11 deletion (‘catch 22’)

54
Q

List the clinical features of DiGeorge Syndrome

A
  1. Short philtrum
  2. Thin upper lip
  3. Prominent ears
  4. Hypocalcaemia
  5. T-cell deficiency
  6. Short stature
55
Q

What medical conditions are associated with DiGeorge syndrome?

A
  1. Branchial arch and heart defects (aortic arch anomalies, TOF, common arterial trunk)
  2. Immunodeficiency
  3. Hypocalcaemia (hypoparathyroidism)
56
Q

What is the genetic basis of Noonan Syndrome?

A

AD inheritance

57
Q

List the clinical features of Noonan Syndrome

A
  1. Characteristic facies - hypertelorism, ptosis, ear abnormalities
  2. Occasional mild LD
  3. Short webbed neck
  4. Trident hair line
  5. Pectus excavatum
  6. Short stature
  7. Mild developmental delay
  8. Undescended testes
58
Q

What medical conditions are associated with Noonan Syndrome?

A
  1. Congenital heart disease (pulmonary stenosis, ASD)
59
Q

What is the genetic basis of Williams Syndrome?

A

7q11 microdeletion

60
Q

List the clinical features of Williams Syndrome

A
  1. Short stature
  2. Characteristic facies:
    - Periorbital fullness
    - Full cheeks
    - Anteverted nares
    - Wide mouth with full lips
    - Small widely spaced teeth
  3. Mild to moderate LD
61
Q

What are the medical conditions associated with Williams Syndrome?

A
  1. Transient neonatal hypercalcaemia

2. Congenital heart disease (supravalvular aortic stenosis)

Paediatrics 4MB (22 decks)

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