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FOP/TAS > Genetic Syndromes > Flashcards

Genetic Syndromes Flashcards

(73 cards)

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1
Q

47, XXY

A

Klinefelter Syndrome

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2
Q

45, X

A

Turner’s Syndrome

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3
Q

Results from mutations in Fibrillin 1 (FBN1)

A

Marfan Syndrome

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4
Q

Autosomal dominant mutation in FGFR3 Fibroblasy growth factor receptor 3

A

Achondroplasia

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5
Q

Learning disability, macro-orchidism, autism, seizures

A

Fragile X syndrome

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6
Q

Trisomy 21

A

Down’s syndrome

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7
Q

Trisomy 18

A

Edwards Syndrome

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8
Q

Trisomy 13

A

Patau Syndrome

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9
Q

Short stature, flare face/brachycephaly (short skull from ant to post), flat nasal bridge, developmental delay, third fontanelle, hypotonia - protruding tongue, upward slanted palpebral fissures, small ears, simian crease, joint hyperflexibility, short neck, sandal sign

A

Down’s Syndrome

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10
Q

Associated with AVSD

A

Downs Syndrome

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11
Q

Associated with duodenal atresia and Hirschprung

A

Downs

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12
Q

Ncreased nuchal transleucy at 12 week dating scan

A

Downs

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13
Q

Ass with Hirschprung disease

A

Down syndrome

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14
Q

Ass with atlantoaxial subluxation

A

Down’s syndrome

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15
Q

Affect midline structures of the face - scalp defects, cleft lip, microcephalic, cyclopia, polydactyl, holoproencephaly

A

Patau’s (Trisomy 13)

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16
Q

Microcephalic, rockerbottom feet, omphalocele, micrognatia, hypertelorism (wide set eyes) , upturned nose, clenched fists, hypertonic

A

Edwards syndrome

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17
Q

22q11 microdeletion

A

DiGeorge Syndrome

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18
Q

Autosomal dominant CHD7 mutation

A

CHARGE syndrome

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19
Q

Hypotonia, hyperphagia, obesity, hypogonadism

A

Prader Willi

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20
Q

Horseshoe kidney

A

Turners (and Edwards)

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21
Q

Coloboma

A

CHARGE, treacher Collins, patau

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22
Q

Athymia

A

Di George

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23
Q

Cherry red spot

A

Metabolic storage diseases - Tay Sachs, Nieman Pick

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24
Q

Tubular nose

A

Di George syndrome

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25
7q11.23 microdeletion
Williams syndrome
26
Macrosomia, macroglossia, hermihypertrophy, exomphalos, hypoglycaemia, linear ear groove, Wilm’s tumour
Beckwith Wiedemann
27
Agenesis of corpus callosum, severe developmental delay, seizures, lacunae of retina
Aicardi syndrome
28
Macrocephaly, developmental delay, skin papillomas, facial tichilemmomas, increased risk of thyroid/breast/endometrial tumours
Cowden syndrome
29
Macrocephaly, learning difficulties, macrorchidism, high arch palate, large jaw, joint hyperextensibility,
Fragile x
30
Friendly personality, upturned nose, full lips, stellate iris, Supervalavar aortic stenosis, hypercalcaemia, hypertension
Williams syndrome
31
Fair hair and eyes, seizures, happy with bursts of laughter, coarse facies, hypotonic gait,
Angelman syndrome
32
Generalised oedema and cystic hygroma in utero, oedema and hypoplastic nails at birth
Turners syndrome
33
Short, coarctation of aorta, shield shaped chest, webbed neck, low hairline, primary amenorrhea streak gonads, horseshoe kidney
Turners
34
Male, normal intelligence, tall, long arms, gynaecomastia, hypogonadism
Klinefelters
35
TOF, cholestasis, butterfly vertebrae, eye abnormalities
Alagille syndrome
36
Haematuria, deafness
Alport syndrome
37
Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes
MELAS
38
Risk of Down syndrome recurrence with 14q21q translocation
10-15%
39
Risk of Down syndrome recurrence with 21q21q translocation
100%
40
Hypotonia, clinodactyly, single palmer crease, sandal gap in toes, upstanding palpebral fissures,
Downs
41
Brushfield spots at eye exam
Downs
42
Short, bleeding disorder, pulmonary stenosis murmur, webbed neck
Noonan’s
43
Aniridia, Wilm’s tumour
WAGR - Wilm’s, Aniridia, Genitourinary abnormality, Retardation
44
CATCH 22
``` CHD - TOF, truncus arteriosus, interrupted aortic arch A - abnormal facies T- thymus absent / immunodeficiency C - cleft palate H - hypocalcaemia/ hypo parathyroidism 22 ```
45
5p deletion
Cri du Chat
46
Macrocephaly, short stature, short limbs, trident hand
Achondroplasia (short limb dwarfism)
47
Indications for GH therapy
- Growth hormone deficiency (GHD), including acquired GH deficiency as the result of brain tumours, cranial irradiation or other brain injury, defined as a peak growth hormone of less than 6.7micrograms/L on two stimulation tests - Turner syndrome (TS) - Prader-Willi syndrome - Chronic renal insufficiency (CRI) - Children born small for gestational age (SGA) with subsequent growth failure at 4 years of age or later - Short stature homeobox-containing gene (SHOX) deficiency
48
Lens dislocation, chest deformity, joint laxity, aortic dissection
Marfan s syndrome
49
Auto dominant, skin hyperextensibility, kyposcoliosis, aortic root dilation, frequent skin lacerations and scarring
Ehlers danlos
50
Multiple fractures, blue sclera, hearing loss
Osteogenesis imperfecta
51
COL1A1 and COL1A2 gene mutations
Osteogenesis imperfecta
52
Decreased cervical motion, short webbed neck , low hair line
Klipple feil syndrome
53
External auditory canal stenosis/ ear abnormalies - conductive hearing loss , downward slating palpebral fissures, coloboma, mandible/zygoma underdevelopment , cleft palate
Treacher collins Autosomal dominant - failure of migration of neural crest cells to 1st and 2nd pharyngeal arches required for craniofacial development
54
Sensorineural hearing loss, white forelock, abnormal pigmentation of iris
Waarenburg syndrome - autosomal dominant
55
Profound sensorineural deafness, vestibular dysfunction, goitre
Pendred syndrome (Dx: bilateral dilation of vestibular aqueducts at MRI)
56
Bilateral vestibular schwanomma
NF2
57
microcephaly, failure to thrive, short stature, premature aging, severe photosensitivity, occular - cataracts, optic atrophy
Cockayne syndrome
58
Synophry (mono brow) / bushy eyebrows, short stature, intellectual disability
Cornelia de Lange syndrome
59
Learning difficulties, broad thumbs, clinodactyly of 5th finger, microcephaly, short stature,
Rubinstein taybi syndrome
60
Learning difficulties, obesity, hypothalamic abnormalities - central diabetes insipidus, brightness - retinitis pigmentosa,
Laurence-Moon- Biedl Syndrome
61
Short stature, obesity shortened 4th and 5th metacarpals, subcutaneous plaque, hypocalcaemia
Albright hereditary osteodystrophy
62
Girl with initially normal development, then regression, secondary microcephaly, wringing midline movements,
Ret syndrome
63
Low serum/amniotic alpha feto protein in pregnancy
Trisomies, turners
64
Elevated alpha feto protein
Risk of spina bifida, omphalocele/gastroscesis
65
Dysmorphia, cleft palate, eye problems, early onset arthritis
Stickler syndrome
66
Autosomal recessive, isolated motor developmental delay, absent deep tendon reflexes, lower motor neurone pathology on EMG
Spinal muscular atrophy
67
Lisch nodules on iris and optic glioma
Neurofibromatosis
68
Posterior embryotoxon at eye exam
Alagille syndrome
69
Cleft palate, depressed nasal bridge, hypertelorism, short nails, hypoplasia of nails, hirsutism, mum with epilepsy
Maternal phenytoin use (fetal hydrantoin syndrome)
70
Flat nasal bridge, smooth long philtrum, thin vermillion border, low set ears, spina bifida, intellectual disability, cleft palate, congenital heart defects, mother on antiepileptics
Maternal sodium valproate use
71
Female baby with an unguinal hernia
Consider complete androgen insensitivity syndrome (AIS), 46xy
72
Retinal hamartoma and retinal hypo pigmented patched
Tuberous sclerosis
73
Exocrine pancreatic deficiency, severe eczema, pancytopenia p, skeletal dysplasia, short stature
Schwannman Diamond

FOP/TAS (9 decks)

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