ULTIMATE SYNDROME DECK Flashcards
(80 cards)
1
Q
Facies - upslanting palpebral fissures, epicanthal folds, low set ears, flat nasal bridge
Sandal gap, single palmar crease
AVSD
Hypotonia
A
T21
2
Q
Acute megakaryoblastic leukaemia
ALL/AML
A
T21
3
Q
Deafness Vision problems Hypothyroidism Coeliac Duodenal atresia T1DM
A
T21
4
Q
Eunochoid body habitus Gynaecomastia Small testes Low IQ ANgry/ASD/ADHD/emotionally immature
A
Kleinefelter XXY
5
Q
Mitral valve prolapse
A
Kleinefelter XXY
6
Q
Breast Ca, extra gonadal germ cell tumours
A
Kleinefelter XXY
7
Q
Short stature Infertility/ovarian failure Increased upper:lower segment Defective dental development Recurrent otitis media Sensorineural deafness
A
Turner XO
8
Q
Aortic arch malformation, bicuspid aortic valve, coarctation
A
Turner XO
9
Q
Oedema of hands and feet at birth
A
Turner XO
10
Q
Micro/anophthalmia Cleft lip/palate Postaxial polydactyly Scalp defects VSD/PDA/ASD Coloboma
A
T13 - Patau
11
Q
Rockerbottom foot FIsted hands Wizened features VSD/PDA IUGR Meckel's, malrotation or omphalocele
A
T18 - Edward
12
Q
Short Puffy eyes Long flat philtrum Dev delay Over friendly, socially disinhibited, ADHD, excessive empathy
A
William Syndrome
13
Q
Supravalvular aortic stenosis
Peripheral pulmonary stenosis
A
William Syndrome
14
Q
Hypercalcaemia
Hypercalcuria
Early puberty
A
William
15
Q
Cardiac - truncus arteriosis, ToF, IAA Abnormal facies - prominent nose w large nares, small mouth, small ears Thymic hypoplasia (impaired T cells) Cleft palate Hypocalcaemia
A
22q11 DiGeorge
“CATCH22”
16
Q
Pre and post-natal growth restriction Microcephaly Greek helmet facies Severe ID Recurrent aspiration ASD, VSD, PS
A
Wolf Hirshom
17
Q
What is most common and second most common trisomy?
A
1 - T21
2 - T18
18
Q
Most common translocation assoc w T21?
A
14;21
if 21;21 then recurrence rate is 100%
19
Q
Inheritance of William?
A
AD, usually de novo
20
Q
Failure of 3rd & 4th pharyngeal pouch to form?
A
22q11 - Di George
21
Q
Genetic cause of Prader-WIlli?
A
Absence of paternal 15q
Either de novo deletion (70%) or maternal uniparental disomy (28%)
2% have mutation/deletion in imprinting centre - 50% inheritence
22
Q
Neonatal hypotonia Undescended testes Voracious appetite +++ ID Obesity Hypopigmentation Small hands/feet
A
Prader-Willi
23
Q
Premature adrenarache w delayed other secondary sex characteristics OCD, autism Cognitive impairment Epilepsy Scoliosis
A
Prader-Willi
24
Q
Genetic cause of Angelman?
A
Deletion of maternal 15q
70% de novo deletion
5% paternal uniparental disomy
25
```
Microcephaly
ID w absent speech
Hand flapping
Ataxia
Laughter
Loves water
```
Angelman
26
Abnormal EEG with large amplitude slow spike waves in the absence of seizures
Angelman
27
Genetic cause of BWS?
Paternal over expression at 11p13 resulting in overactivity of IGF2
Assoc w IVF (loss of IC2 methylation)
Sporadic (85%)
AD (15%)
28
```
Macrosomia, macroglossia, hemihypertrophy
Abdominal wall defects
Dysmorphic ears
Hyperinsulinism, hypoglycaemia
Wilms, hepatoblastoma, neuroblastoma
```
Beckwith Widemann
29
Which phenotypic factor is most strongly associated w tumour development in BWS?
Hemihypertrophy
30
Risk period of tumour development in BWS?
0-8 years
| USS 3/12 until age 8
31
Genetic cause of Russell Silver?
Maternal over expression at 11p resulting in underactivity of IGF2
60% sporadic deletion, 10% maternal uniparental disomy
32
```
SGA w large head
Prominent forehead, triangle face
Hemihypertrophy
Hypotonia
Hypoglycaemia
```
Russel Silver
33
```
Hirsutism
Unibrow, long eyelashes
Ulnar ray defect
Severe GOR
PS, VSD, ASD
```
Cornelia de Lange
34
Inheritance of Cornelia de Lange?
Single gene mutation
NIPBL = 60%
SMC1A = 5%
Usually AD, de novo
35
```
Short stature
Webbed neck
PVS
Dev delay
Coag defects
```
Noonan
36
Inheritance of Noonan?
Single gene
PTPN11 - 50%
Interrupts Ras-MAPK
AD 2/3 de novo
37
```
Lentigines
ECG conduction defects & HOCM
Ocular hypertelorism
Pulmonary stenosis
Abnormalities of genitalia
Retarded growth
Deafness
```
LEOPARD syndrome
38
```
FTT
Dev delay / ID
Coarse facial features, loose skin w deep palmar/plantar creases
Papillomata of face & perianal region
Hypotonia, joint laxity, tight achilles
```
Costello
39
Inheritance of Costello?
Single gene
| HRAS missense mutation causing defect in Ras/MAPK
40
```
Prolonged feeding abnormality -> FTT
Seizures
Tall forehead, low ears, sparse curly hair
Hyperkeratosis
Dystrophic nails
HOCM, PS
```
Cardiofacicocutaneous syndrome
41
Inheritance of Cardiofacicocutaneous Syndrome?
Single gene
AD
BRAF/MAP2K/KRAS
42
Overgrowth (height & HC >2SDs above)
High hair line
Broad & prominent forehead
Learning disability
Sotos syndrome
43
Inheritance of Sotos?
Single gene
NSD1
AD >95% de novo
44
```
Tall, long limbed, thin
Joint hypermobility
Aortic dissection/AR/MR
Chest wall deformity
Lens dislocation UPWARDS
Normal IQ
```
Marfan
45
Inheritance of Marfan?
Single gene
FBN1
Defective fibrillin (connective tissue)
75% have one affect parent, 25% de novo
46
```
Tall, long limbed
ID
Lens dislocation (DOWNWARDS)
Thromboembolism
Seizures
```
Homocystinuria
47
Investigation and management for homocysteinuria?
Plasma total homocysteine and methionine will be markedly elevated
B6 if responsive, methionine restricted diet, folate & B12
48
Inheritance of homocysteinuria?
Single gene
CBS mutation
AR
49
```
Fractures
Dental abnormalities
Hearing loss
Blue sclera
Osteoporosis
Wormian bones
```
Osteogenesis Imperfecta
50
Inheritance of OI?
```
Single gene
COL1A1 most common
COL1A2 second most common
Classic OI - 60% de novo
Deforming/perinatally lethal OI - 100% de novo
```
51
```
Short limbed dwarfism
Proximal limbs
Midface hypoplasia
Hyperextensible joints
Delayed motor milestones
Sleep apnoea
```
Achondroplasia
52
Inheritance of Achondroplasia?
Single gene
FGFR3 - fibroblast growth factor
AD - 80% de novo
Homozygous mutation usually lethal in newborn period
53
```
Intrahepatic biliary dysgenesis
Butterfly vertebrae
Pulmonary stenosis
Tubulointerstital nephropathy/structural renal abnormalities
Posterior embryotoxin
```
Alagille Syndrome
54
Inheritance of Alagille?
```
Single gene
JAG1 - most common
NOTCH2 - second
30-50% inherited, 50-70% de novo
AD
```
55
```
Coloboma
Heart defect
choAnal atresia
Retarded growth & dev
Genital abnormalities
Ear abnormalities "snipped off helix"
```
CHARGE
56
Inheritance of CHARGE?
Single gene
CHD7
AD usually de novo
57
Deafness
Ear abnormalities
Brachial fistulae/cysts under SCM
Renal agensis/hypoplasia/dysplasia
Brachio-Oto-Renal syndrome
58
Inheritance of Brachio-Oto-Renal syndrome?
SIngle gene
EYA1 mutation
AD
Abnormalities of 1st and 2nd brachial arches
59
```
Cone-rod dystrophy
Obesity
Insulin resistance
Progressive sensori-neural hearing loss
Dilated/restrictive cardiomyopathy
Multiple organ failure
```
Alstrom syndrome
60
```
Rod-cone dystrophy (night blindness by 7-8, legal blindness by 16)
Truncal obesity
Post-axial polydactyly
Cognitive impairment/learning idsability
Urogenital abnormalities
```
Bardet-Biedel
61
Growth deficiency, reduced subcut fat
Erythematous, sun sensitive skin with cafe au lait spots
Microcephaly
Prominent ears and predisposition to otitis media and recurrent sinus/resp infections
Diabetes
Infertility
50% cancer risk by age of 25
Bloom syndrome
62
Supernumerary teeth
| Bone abnormalities
Cleidocranial dysostosis
63
```
Large ears and nose, sunken eyes
Short stature
Neurological degeneration
Cataracts, pigmented retinopathy
Sun sensitivity
```
Cockayne syndrome
64
```
Skeletal malformation of radial/thenar/carpal bones
Vertebral anomalies
Sloping shoulders
Secundum ASD, VSD
Cardiac conduction disease
```
Holt Oram
65
Segmental/patchy overgrowth syndrome
Normal until toddler years
Pre-disposition to tumuors, DVT and PE
Proteus syndrome
66
```
Bitemorpal narrowing and ptosis with upturned nostrils
2-3 syndactyly
Post-axial polydactyly
Microcephaly & ID
Growth retardation
Cleft
Congenital cataracts
Anomalous pulmonary venous return
High cholesterol
```
Smith-Lemli-Opitz
67
```
Hemifacial microsomia
Conductive hearing loss
Manibular abnormalities
Vertebral defects
ToF/VSD
```
Goldenhar
68
Hypoplasia of midface
Ear abnormalities, conductive hearing loss
Eyelid coloboma, sloping eyes, no lower eyelashes
Treacher-Collins
69
Micrognathia
Glossoptosis
Cleft palate
Airway obstruction & feeding difficulties
Pierre-Robin Sequence
70
Cause of Pierre-Robin Sequence?
Mandibular hypoplasia, prior to week 9 post-conception
| Under-developed lower jaw leads to abnormal placement of tongue, cleft palate and airway obstruction
71
Commonest syndrome assoc w PRS?
Stickler syndrome
72
PRS +
Myopia/cataract/retinal detachment
Hearing loss - conductive and sensorineural
SUFE/Perthes
Stickler syndrome
73
```
Large ears
Macro-orchidism post puberty
Long face & prominant jaw
Dev delay at 2-4years and ID (IQ 30-50)
ASD/eye contact avoidant
```
Fragile X
74
Inheritance of fragile X?
X linked domiannt (females may have symptoms)
Trinucleotide repeat disorder <55 repeats normal, 55-200 "pre-mutation", >200 full mutation
CANNOT BE DETECTED ON MICROARRAY/SEQUENCING - needs PCR or southern blot
75
Fragile X premutation presentation?
Shy, late onset cerebellar ataxia and intention tremor
76
Progressive motor, cognitive and psychiatric disturbance
| Average age of onset 35-45
Huntington's
77
```
High pitch cat like crying
Round face, downslanting palpebral fissures, broad nose, low set ears
Microcephaly
FTT
Hypotonia
Psychomotor delay
```
Cri du Chat
| Partial deletion chromosome 5
78
```
Bifid uvula
Aortic dilatation
Wide spaced eyes
Scoliosis
Joint laxity
Talipes
```
Loeys-Ditz syndrome
79
```
Flat philtrum
Thin upper lip
Jittery babies
Reduced brain volume
Learning disability/dev delay
Short stature, microcephaly
ASD/VSD, conotruncal defects
```
Fetal Alcohol Syndrome
80
```
Vertebral anomaly
Anal abnormality
Cardiac - VSD/TOF
Tracheo-oesophageal fistula
Renal anomaly (single umbi artery)
Limb abnormality
```
VACTERL association
| Not a syndrome- unknown cause
