Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Paediatrics 4MB > Common Syndromes and their Recognition > Flashcards

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the genetic basis of Patau Syndrome?

A

Trisomy 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Describe the prognosis in Patau Syndrome

A

Almost all die by age 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What medical conditions are associated with Patau Syndrome?

A
  1. Cardiac and renal problems
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the genetic basis of Edwards Syndrome?

A

Trisomy 18

More common in females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Describe the prognosis of Edwards Syndrome

A

Half die by 2mths

Severe LD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What medical conditions are associated with Edwards Syndrome?

A
  1. Cardiac and renal problems
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the genetic basis of Fragile X Syndrome?

A

X-linked
Trinucleotide repeat expansion
Anticipation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Describe the prognosis in Fragile X Syndrome

A 
Speech impairment
Autism in up to 50%
Impulsive
Shy
Severe LD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What medical conditions are associated with Fragile X Syndrome?

A
  1. Mitral valve prolapse
  2. Epilepsy
  3. Scoliosis
  4. Joint laxity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the genetic basis of Prader-Willi Syndrome?

A

Lack of paternal 15q

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Describe the prognosis of Prader-Willi Syndrome

A

Mild LD

Expressive language disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What medical conditions are associated with Prader-Willi Syndrome?

A
  1. Late onset diabetes

2. Psychiatric - e.g. OCD, anxiety

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the genetic basis of Angelman Syndrome?

A

Lack of maternal 15q

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

List the clinical features of Angelman Syndrome

A
  1. Microcephaly

2. Ataxic, jerky movements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Describe the prognosis of Angelman Syndrome

A

Severe LD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What medical conditions are associated with Angelman Syndrome?

A
  1. Epilepsy

2. GI conditions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What is the genetic basis of Cri-du-Chat syndrome?
5p deletion
26
List the clinical features of Cri-du-Chat syndrome
1. Round flat face 2. Hypertelorism (abnormal large distance between two organs) 3. Micrognathia 4. Characteristic cry like mewling of a cat
27
Describe the prognosis of Cri-du-Chat syndrome
Severe LD
28
What medical conditions are associated with Cri-du-Chat syndrome?
None
29
What is the genetic basis of Klinefelter Syndrome?
47 XXY
30
List the clinical features of Klinefelter Syndrome
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
Describe the prognosis of Klinefelter Syndrome
May have LD
32
What medical conditions are associated with Klinefelter Syndrome?
None
33
What is the genetic basis of Turner Syndrome?
45 X
34
List the clinical features of Turner Syndrome
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
What medical conditions are associated with Turner Syndrome?
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
What is the genetic basis of Tuberous Sclerosis?
AD often spontaneous mutation of TSC1 or TSC2 genes
37
List the clinical features of Tuberous Sclerosis
1. Multiple hamartomas 2. Infantile spasms 3. Aggression and self injury
38
Describe the prognosis of Tuberous Sclerosis
Hyperkinetic Autistic traits Severe LD in some cases
39
What medical conditions are associated with Tuberous Sclerosis?
1. Infantile spasms 2. Epilepsy 3. Hamartomas
40
What is the genetic basis of Neurofibromatosis?
AD inheritance of mutation in NF1 or NF2 gene
41
List the clinical features of Neurofibromatosis
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
Describe the prognosis of Neurofibromatosis
10% severe LD
43
What are the medical conditions associated with Neurofibromatosis?
1. Sarcomatous change of the benign tumours
44
What is the genetic basis of PKU?
AR | Phenylalanine hydroxylase deficiency
45
Describe the prognosis with PKU
Microcephalic mental impairment Autism Epilepsy
46
What is the genetic basis of Lesch-Nyan Syndrome?
X-linked recessive | Uric acid metabolism
47
List the clinical features of Lesch-Nyan Syndrome
1. Hypotonia 2. Dysphagia 3. Growth retardation
48
Describe the prognosis of Lesch-Nyan Syndrome
Normal development in infancy Moderate LD Death in 20s from resp or renal failure
49
What medical conditions are associated with Lesch-Nyan Syndrome?
1. Epilepsy
50
What is the genetic basis of Rett Syndrome?
X-linked dominant
51
List the clinical features of Rett Syndrome
1. Fits 2. Agitation 3. Truncal ataxia 4. Depression
52
Describe the prognosis of Rett Syndrome
Normal development for first year then lose speech, mobility, etc.
53
What is the genetic basis of DiGeorge Syndrome?
22q11 deletion ('catch 22')
54
List the clinical features of DiGeorge Syndrome
1. Short philtrum 2. Thin upper lip 3. Prominent ears 4. Hypocalcaemia 5. T-cell deficiency 6. Short stature
55
What medical conditions are associated with DiGeorge syndrome?
1. Branchial arch and heart defects (aortic arch anomalies, TOF, common arterial trunk) 2. Immunodeficiency 3. Hypocalcaemia (hypoparathyroidism)
56
What is the genetic basis of Noonan Syndrome?
AD inheritance
57
List the clinical features of Noonan Syndrome
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
What medical conditions are associated with Noonan Syndrome?
1. Congenital heart disease (pulmonary stenosis, ASD)
59
What is the genetic basis of Williams Syndrome?
7q11 microdeletion
60
List the clinical features of Williams Syndrome
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
What are the medical conditions associated with Williams Syndrome?
1. Transient neonatal hypercalcaemia | 2. Congenital heart disease (supravalvular aortic stenosis)

Paediatrics 4MB (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions