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Syndromes Flashcards

1
Q

Bardet-Biedl syndrome

A

BBS gene- encodes for proteins in the cilia of the cell

Obseity, retinitis pigmentosa, polydactyly, hypogonadism, kidney failure

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2
Q

Usher syndrome

A

Vision (retinitis pigmentosa) and hearing loss

AR

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3
Q

Zellweger syndrome

A

Inherited peroxisomal disorder
Abnormal elevation VLCFA –> accumulates in neurons = neurological injury
AR

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4
Q

Noonan genetics, prevalence

A

AD
MC PTPN11 gene
1/1000

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5
Q

Noonan clinical features

A

Short stature
Facial dysmorphisms- coarse face, hypertelorism + down slanting eyes, small upturned nose, full lips, low set post rotated ears, sparse curly hair, wide forehead
Webbed neck
Chest deformities
Cryptoochidism
Learning difficultures
Cardiac (85%)- Valvar PS, ASD, HCMO, VSD, TOF
Bleeding diathesis, leukaemia (JMML), NH lymphoma
Neuroblastoma
Pulmonary lymphangectasia with spontaneous chylothorax, higher incidence after surgery

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6
Q

RASopathies other than Noonan- similar clinical features

A

Short stature

Similar dysmorphc facies, feeding problems, cardiac, learning difficulties tend to be worse, bleeding diathesis

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7
Q

Costello syndrome

  • Genetics
  • Clinical features
  • Screening
A

New AD - HRas gene only
Clinical features similar to Noonan, also infantile FTT, loose skin, papillomata esp nose/mouth/anus (later onset), hand held in ulnar deviation, cardiac abnormalities (HCMO, arrhythmia, valve abnormalities)
10-15% tumour risk- rhabdomyosarcoma, ganglioneuroblastoma, bladder carcinoma
All have an intellectual disability
Needs 3/12 abdo US until age 6-8

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8
Q

CFC- cardiofaciocutaneous syndrome

  • Pathology
  • Genetics
A 
RASopathy
New AD
Cardiac- HCMO > PS
Tall forehead, face otherwise similar to Noonans
Signifiant feeding problems 
Significant developmental delay
High risk of seizures
Unknown cancer risk
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9
Q

Williams

  • Prevalence
  • Genetics
A

1/20 000

90% caused by microdeletion 7q11.23- loss of elastin gene

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10
Q

Williams

  • Cardiac defect
  • Facies
  • Other clinical features
A

50-80% CHD- supravalvular aortic stenosis (progressive up aorta), supravalvular PS, branch PS, coronary artery stenosis (can arrest under GA)
Elfin face, stellate iris, widely spaced teeth, flat nasal bridge, long philtrum
Developmental delay with strong language skills, infantile hypercalcaemia 15%

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11
Q

Klinefelter syndrome

  • Frequency
  • Clinical features
  • Cardiac
A

1/1000
Tall stature, low IQ/behavioural problems, eunuchoid habitus, hypergonadotrophic hypogonadism (pubertal delay, infertility), gynaecomastia
50% CHD- ASD, PDA

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12
Q

22q11

  • Frequency
  • Type of mutation
  • Clinical features other than cardiac
  • Ix
A 
1/4000
10-15% inherited, remainder sporadic
CATCH22
Cardiac anomalies 75%
Abnormal facies- low set/notched/rotated ears, short palpebral fissure, upslanting eyes, narrow nose, micrognathia
Thymic aplasia/hypoplasia (complete 1%)
Cleft palate, bifid uvula
Hypocalcaemia, hypoparathyroidism

Other:

  • Psych 93%- ADHD, ASD, 30x increased risk schizophrenia
  • Recurrent RTI
  • Velopharyngeal insufficiency- hypernasal speech, swallowing issues
  • Delayed expressive language
  • Deafness due to OM
  • Sensorineural deafness 15%

Ix: microarray/FISH

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13
Q

22q11 cardiac

A

Cardiac anomalies 75%

  • Conotruncal defects = RV, RVOT, LVOT, aortic arch
  • Vascular anomalies 50%- R aortic arch, L SVC, vascular ring, mirror image arch branching
  • TOF 35%
  • INterrupted aortic arch 20% (= very severe coarct)
  • VSD 15%
  • Truncus arteriosus 10%
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14
Q

Patau syndrome

  • Frequency, genetics
  • Prognosis
  • Cardiac
  • Other clinical features
  • Ix
  • Natural Hx
A 
T13, 1/16 000 (usually non-dysjunction)
80% mortality < 1 year
80% CHD- ASD/VSD, PDA, HLHS
Holoprosencephaly, midline defects eg. cleft lip and palate, micropthalmia/coloboma, polydactyly, clenched hand, scalp defect (no hair, thinner skin)
Normally grown
Ix. karyotype/microarray/FISH
Median survival 10 days, 80% mortality by 3 months
Profound ID in long term survivors
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15
Q

Edwards syndrome

  • Frequency
  • Clinical features
A

T18, 1/8000 (usually non-dysjunction)
Hypertonia, arthrogryposis, rockerbottom feet, overlapping fingers, omphalocele/diaphragmatic hernia
IGUR
90-100% CHD- ASD, VSD, PDA, TOF, CoA, double outlet R ventricle
Median survival 14 days. 80% mortality by 3 months

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16
Q

Turner syndrome

  • Frequency
  • Cardiac disease
  • Other clinical features
A

1/2000
CHD 35%
- L heart lesions: bicuspid AV 15%, AS 10%, CoA 5%, MV anomalies <5%, HLHS rare
- At risk of progressive aortic dilatation, dissection
- Hypertension
Short stature, shield chest, low post hairline, webbed neck, infertiliy, cubitus valgus, rockerbottom feet/neonatal lymphoedema
Streak ovaries
Normal IQ

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17
Q

CHARGE

  • Genetics
  • Clinical features
A

CHD7 gene- usually sporadic (can do single gene sequencing)
Coloboma/microphthalmia 80-90%
Heart defect 90%- conotruncal defects eg. ToF, aortic arch anomalies
Atresia or the choanae/choanal stenosis 50-60%
Retarded growth and development 70-80%
Genitourinary abnormalities
Ear abnormalities >90%- SN deafness, micotia, hypoplastic semicircular canals

Other (CCT)
Cranial nerve palsy esp 7, esp asymmetrical
Cleft palate
TOF

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18
Q

Allagile

  • Genetics
  • Clinical features
A 
JAG1, NOTCH2
AD inheritance
Deep set eyes, broad forehead, prominent chin (stuck on)
Posterior embryotoxon
Cholestasis, bile duct paucity, LFT abnormalities
Butterfly vertebrae
Cardiac 80%- branch PS 70%, TOF 10%
Cerebral blood vessel disease
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19
Q

Marfan

  • Prevalence
  • Genetics
A

1/5000
AD, 25% de novo
FBN1 gene mutation (fibrillin gene)

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20
Q

Marfan - revised Ghent criteria

A

No family history:

  • Aortic root dilatation Z score >= 2 + ectopia lentis
  • ARD + FBN1
  • ARD + systemic score >=7
  • Ectopia lentis + FBN1 + lesser ARD

Family history:

  • Ectopia lentis
  • Systemic score >=7
  • ARD >= 2 (>20 years) or >=3 (<20 years)
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21
Q

Marfan clinical features

A

Ectopia lentis- superior lens dislocation
Aortic root dilatation +/- dissection- progressive over years
Hypermobile joints- wrist sign, thumb sign, hindfoot deformity, plain flat foot
Chest wall deformity
Spontaneous pneumothorax
Dural ectasia
Scoliosis or kyphosis
Facies- dolichocephaly (long narrow head), downslanting palpebral fissures, enophthalmos, retrognathia, malar hypoplasia (underdeveloped cheek bones)
Striae
Severe myopia
MVP
Reduced upper segment/lower segment and increased arm span/height
Normal IQ

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22
Q

Loeys-Dietz syndrome

A

Aortic dilatation
Generalized arterial tortuosity = other arterial aneurysms and dissection
Hypertelorism, cleft palate, bifid uvula, translucent skin, tall stature, scaphocephaly

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23
Q

Smith-Lemli-Opitz

  • Genetics
  • Pathology
  • Ix
A

Single gene, AR- DHCR7 gene
Disorder of cholesterol synthesis
Diagnosed on raised 7-dehydrocholesterol level (7-DHC)

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24
Q

Fragile X

- Genetics

A

X-linked recessive
Increased CGG repeats in FMR1 gene
- 5-44 repeats normal
- 45-54 intermediate, normal phenotype
- 55-200 = premutation, normal IQ, M & F risk developing FXTAS, F risk of affected child, risk of premature ovarian insufficiency
- >200 = full mutation, males affected, females 50-70% affected

25
Q

Smith-Lemli-Opitz

- Clinical features

A

Growth retardation- pre and post natally
Microcephaly (holoprosencephaly 5%)
Facies- bitemporal narrowing, ptosis, anteverted nostrils
Cleft palate (not lip), cataracts, 2-3 toe syndactyly, post-axial polydactyly, genital abnormalities (hypospadias, cryptochidism, sex reversal, bicornuate uterus)
Cardiac 50%
Intellectual and behavioral disturbance

26
Q

Fragile X clinical features

A

Intellectual impairment- mild to severe boys, mild girls
Facies- macrocephaly (microcephaly basically excludes), long face, prominent jaw, large ears, macro-orchidism, lax joints
Hyperactivity, autistic-like (eye-avoidant)
Language delay

27
Q

FXTAS

A

Fragile X tremor ataxia syndrome
Premutation carriers of Fragile X only (55-200 CGG repeats)
45% of male carriers, 16.5% of female carriers > 50 years

28
Q

Prader-Willi

  • Genetics
  • Clinical features
A 
Loss of paternal 15q11.13
Hypotonia and FTT in infancy
Mild-mod ID, developmental delay
Obesity and hyperphagia (H2O = hypotonia, hyperphagia, obesity)
Undescended testes
29
Q

Angelman

  • Genetics
  • Clinical features
A 
Loss of maternal 15q11.13
Hypertonia
Severe ID
Epilepsy
No language
30
Q

Stickler syndrome

A

AD
MC syndrome associated with Pierre Robin sequence
Cleft palate/submucosal cleft/bifid uvula
Myopia, vitreous changes, retinal detachment
High frequency hearing loss
Femoral head failure, scoliosis, OA

31
Q

Achondroplasia

A

AD

32
Q

Myotonic dystrophy

A

AD- triplet repeat expansion
Hypotonia in infancy, often not very alert
Percussion myotonia

33
Q

Tuberous sclerosis

A

AD

34
Q

Cornelia De Lange

A

AD
Ulnar ray defects
Synophrys

35
Q

Duchenne/Becker

A

XL recessive

36
Q

Haemophilia

A

XL recessive

37
Q

Down syndrome screening

A

Coeliac (controversial)

  • ?HLA-DQ2/HLA-DQ8 can be done one off- if neg no further screening
  • IgA TTG ?2-3 yearly, or if symptomatic

Thyroid
- Annual from birth

38
Q

Down syndrome co-morbidities (11)

A 
Coeliac disease
Cardiac disease
Hypothyroidism 
GI: Duodenal atresia, Hirschsprung
Middle ear disease, conductive deafness 
Opthalmology
OSA
Obesity
Atlanto-axial instability 
Psychiatric?
Developmental delay, intellectual impairment
39
Q

Thyroid disease Down syndrome

  • Types of thyroid disease
  • Prevalence
  • NNST
  • Treatment guidelines
  • Treatment benefits
A

28x risk congenital hypothyroidism- usually thyroid hypoplasia
10% false negatives on NNST
- Cardiac surgery suppresses HPA, ionotropes and cardiac drugs, iodine skin prep
15-60% prevalence overall
Subclinical hypothyroidism 40%- cause unknown
Treating sub-clinical hypothyroidism- small improvement in motor development, IQ, growth
- TSH <10 - check goitre/Abs, if absent monitor
- TSH >10 - treat
- T4 low- treat
Can also present with TPO-Ab (>8 years), mild increased risk auto-immune hyperthyroidism

40
Q

Coeliac disease Down Syndrome

A

Prevalence 3-18%
Symptomatic 2/3
Testing- IgA-tTG

41
Q

Syndromes assoc with short stature- proportionate

A 
Noonan
Turner
Williams
22q11
Fanconi anaemia
42
Q

Syndromes assoc with short stature- disproportionate

A

Skeletal dysplasias

Russell-Silver syndrome

43
Q

Fanconi anaemia

  • Genetics
  • Ix
  • Clinical features
A

AR- mutation in DNA repair genes
Chromosome breakage studies, can do genetic panel for fanconi genes
Short stature, microcephaly, developmental delay
Radial ray defects
Renal anomalies
GI atresias
Hyper/hypopigmentation: freckles, cafe au lait
Pancytopenia (may not be all cell lines initially)- typically age 5

44
Q

Syndromes assoc with tall stature

A 
Marfan
Homocystinuria
Klinefelters
Sotos
Beckwith-Wiedemann
45
Q

Homocystinuria clinical features

A 
Tall stature
Low IQ
Joint contractures
Inferior lens dislocation
Risk of VTE/stroke
46
Q

Sotos syndrome clinical features

A

Overgrowth syndrome- tall stature with advanced bone age
Macrocephaly
Dysmorphism

47
Q

Beckwith-Wiedemann syndrome clinical features

A 
Coarse facial features
Abdominal wall defect
Macrosomia
Hypoglycaemia
Asymmetrical
Malignancy- Wilms, hepatoblastoma, rhabdomyosarcoma
48
Q

Syndromes assoc with obesity

A

Prader-Wili

Bardet-Beidl

49
Q

Syndromes assoc with hypotonia in infancy

A 
Prader-Wili
Myotonic dystrophy
SMA
Peroxisomal disorders eg. Zellweger
Congenital disorders of glycosylation
50
Q

Kabuki syndrome

A

AD- de novo
1:30 000
Single gene disorder
Short stature, cleft, CHD (coarctation), interrupted eyebrows, long palpebral fissure

51
Q

Syndromes assoc with radial ray defects

A 
Fanconi anaemia
TAR
VACTERL
Blackfan Diamond anaemia
Goldenhar
52
Q

Waardenburg clinical features

A

Iris heterochromia, white forelock, SN deafness
AD- PAX3, MITF, SOX10
Single gene sequencing

53
Q

Syndromes assoc with deafness- normal external ear

A 
Waardenburg
Jervell-Lange-Nielsen (Long QT)
Usher (retinitis pigmentosa)
Pendred (hypothyroidism)
Alport
NF2
T21
54
Q

Goldenhar (oculo-auriculo-vertebral dysplasia ak OAVD)

A 
1st/2nd branchial arch maldevelopment
Hemifacial microsomia
Conductive deafness
Vertebral defects
Sporadic- cause unknown
55
Q

Treacher Collins

A

Heterozygous single gene disorder= TCOF1
Mandibulofacial dysosotosis, sloping eyes, lower eyelid coloboma (quite specific for TC), malar hypoplasia with small midface, micotia with conductive hearing loss
Normal IQ

56
Q

Connexin 26

A

AR - GJB2 gene
1:30 carrier frequency
MC cause deafness

57
Q

Diamond Blackfan anaemia

A

Bone marrow failure

Tripharyngeal thumbs

58
Q

Pierre Robin sequence

A

Micrognathia + cleft palate + airway obstruction (sequence due to underdevelopment of the lower jaw)

59
Q

Down syndrome clinical features

A

Prenatal- increased nuchal, absent nasal bone
Hypotonia, hyperflexible joints
Characteristic facial features- upslanting palpebral fissures, epicanthal folds, small low set ears, flat nasal bridge, small brachycephalic head
Sandal gap, transverse palmar crease, short hands, curved 5th finger
Cryptorchidism
Brushfield spots, strabismus, cataracts, lens opactities
CHD 50%
SN and conductive hearing loss
Duodenal atresia 12%, TOF, Hirschsprung <1%
Short stature

Exam (16 decks)

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