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Peds Boards > Genetics > Flashcards

Genetics Flashcards

1
Q

Turner syndrome

A 
Webbed neck
Delayed secondary sexual characteristics
Coarctation of the aorta (rt sided lesions)
Short stature
Poor breast development
Short 4th, 5th metacarpals
Widely spaced nipples
Pedal edema
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2
Q

Noonan syndrome

A 
Hypertelorism
Strabismus, amblyopia
Low set, posteriorly rotated ears
High frequency SNHL
Inverted triangular facies
Short, webbed neck
Pulmonary stenosis
Hypertrophic cardiomyopathy
Pectus carinatum, inferior excavatum
Cryptorchidism
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3
Q

Cri du Chat syndrome

A

5p deletion

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4
Q

Apert syndrome

A

Craniosynostosis
Syndactyly
Choanal atresia
Retardation

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5
Q

Alpers syndrome

A

Ataxia
Partial seizures
Retardation
Liver disease

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6
Q

Alport syndrome

A

Renal disease
SNHL
Cataracts

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7
Q

Fanconi syndrome

A

Kidneys

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8
Q

Crouzon syndrome

A

Craniofacial dysotosis
Prominent forehead, eyes

Autosomal dominant

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9
Q

Klinefelter syndrome

A

Delayed speech
Mild motor delay
Infertile, small testes

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10
Q

Trisomy 21

A

Risk 1% + maternal risk
Full translocation 100%, partial 15%

MC hypotonia
Dysplasia of the middle phalanx of 5th finger
Cardiac - AV canal defect
Wide gap between 1st, 2nd toe
Neck with excess skin
Brushfield spots
Duodenal atresia
Leukemia
Atlantoaxial instability
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11
Q

Trisomy 13

A 
Aplasia cutis (punched out skin lesions)
Holoprosencephaly, microcephaly
Low set ears
Polydactyly
Bicornate uterus, hypoplastic ovaries
Bilateral cleft lip/palate
Cystic kidneys
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12
Q

Trisomy18

A 
Clenched fist
Rocker bottom feet
Hypoplastic nails
Horseshoe kidneys
Prominent occiput, low set ears
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13
Q

Holt Oram syndrome

A

ASD

Upper limb defects - 3 jointed thumb

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14
Q

Lesch Nyhan syndrome

A

Retardation
Self-mutilation
Choreiform movements
Elevated uric acid

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15
Q

McCune Albright syndrome

A

Cafe au lait spots
Fibrous dysplasia
Precocious puberty

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16
Q

Prader Willi syndrome

A

Deletion in paternal 15, maternal disomy

Floppy baby
Retardation
Obesity
Talks a lot with little content
Small testicles and hands
Large appetite
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17
Q

Laurence Moon Biedl syndrome

A

Autosomal recessive

Retardation, obesity (like Prader Willi) +
Retinal dystrophy
Syndactyly
Hypogonadism
Gynecomastia
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18
Q

Angelman syndrome

A

Deletion maternal 15, paternal disomy

"Happy puppet"
Severe developmental delay
Ataxia
Short attention span
Microcephaly
Seizures
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19
Q

Beckwith Wiedeman syndrome

A 
Hypospadias
Omphalocele
Macroglossia
Macrosomia
Hypoglycemia
Hemihypertrophy
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20
Q

DiGeorge syndrome: CATCH 22

A

Microdeletion, FISH 22q deletion

Cardiac defects
Abnormal face
Thymic hypoplasia
Cleft palate
Hypocalcemia - parathyroid deficiency
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21
Q

X Linked Recessive

A

Enzyme deficiency

Hemophilia
G6PD deficiency
Chronic Granulomatous Disease
Duchenne Muscular Dystrophy
Nephrogenic Diabtes Insipidus
Retinitis Pigmentosa
Testicular feminization
Wiscott Aldrich syndrome
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22
Q

X Linked Dominant

A

Fathers to daughters, not to sons

Vitamin D resistant rickets
Pseudohyperparathyroidism
Aicardi syndrome
Alport syndrome

23
Q

Autosomal Dominant

A 
Tuberous Sclerosis
Achindroplasia
Retinoblastoma
Marfan syndrome
Apert syndrome
Nail patella syndrome
Neurofibromatosis
Prophyrias
Waardenburg syndrome
Huntington's syndrome
Peutz Jeghers syndrome
Von Willebrand disease
Gardner syndrome
24
Q

Aicardi syndrome

A

Macrocephaly
Seizures
Ocular abnormalities
Absence of the corpus callosum

25
Q

Autosomal Recessive

A 
Galactosemia
Alpha 1 Antitrysin deficiency
Sickle Cell Disease
Thalassemia
Hurler syndrome
Ataxia Telangiectasia
Tach Sachs disease
Wilson disease
Adrenogenital syndrome
Alpers syndrome
Kartagener syndrome
PKU
26
Q

Fetal Alcohol Syndrome

A 
Flat philtrum
Thin upper lip
Small 5th fingernail
Midface hypoplasia
Short palpebral fissures
27
Q

Phenytoin

A

Anticonvulsants: cardiac, cleft lip, hypospadias, cryptorchidism, clubfoot

Finger stiffness, severe nail hypoplasia
Skeletal abnormalities
Ophthalmologic anomalies

28
Q

Carbamazepine

A

Anticonvulsants: cardiac, cleft lip, hypospadias, cryptorchidism, clubfoot

Spina bifida

29
Q

Lithium

A

Ebstein’s anomaly

30
Q

Isotretinoin

A 
Microcephaly
Microphthalmia
Hypoplastic ears
Truncus arteriosis
Absent thymus
31
Q

Warfarin

A

Depressed nasal bridge
Short nose
Hypoplastic distal phalanges
Stippled epiphyses

32
Q

ACE inhibitors

A

Anuria
Oligohydramnios
Skull hypoplasia
Fetal hypotension

33
Q

CHARGE syndrome

A 
Coloboma/cognitive defects
Heart defects
Atresia (choanal)
Retarded growth, development
GU abnormalities (genital hypoplasia)
Ear abnormalities (hearing loss)
34
Q

VACTERL syndrome

A 
Vertebral defects
Anal atresia
Cardiac defects/VSD
TE fistula
Radial hypoplasia, renal abnormalities
Limb abnormalities

Single umbilical artery
Normal intelligence

35
Q

Potter syndrome

A

Oligohydramnios
Clubfeet
Pulmonary hypoplasia

Amnion nodosum (fetal membranes, yellow nodules)

36
Q

Rubinstein Taybi syndrome

A

Broad thumb

Cryptorchidism

37
Q

Pfeiffer syndrome

A

“Crouzon + Rubinstein Taybi”

Short, broad thumbs & great toes
Prominent, widely spaced eyes

38
Q

Prune Belly syndrome

A 
Lack of abdominal musculature
Bladder outlet obstruction
Oligohydramnios
Pulmonary hypoplasia
Undescended testicles
39
Q

Russell Silver syndrome

A

Triangle face

Growth retardation

40
Q

Treacher Collins syndrome

A

Autosomal dominant

Conductive hearing loss
Small jaw
Ear, lower eyelid abnormalities
Normal intelligence

41
Q

Achondroplasia

A

Autosomal dominant

Large head
Short extremities (rhizomelic = proximal)
Frontal bossing
Lumbar lordosis
Nerve root compression
Sleep apnea
42
Q

Hurler syndrome

A

Mucopolysaccharidoses type 1
Autosomal recessive

Coarse facial features
Corneal clouding
Thick skull
Hepatosplenomegaly
Progressive deafness
43
Q

Hunter syndrome

A

Mucolysaccharidoses type 2
X linked

Coarse facial features
Short, skeletal abormalities
Hepatosplenomegaly
Progressive deafness

44
Q

Williams syndrome

A

Elfin facies - upturned nose, wide spaced teeth
Supravalvular aortic stenosis
Hypercalcemia

45
Q

Fragile X syndrome

A

MC inherited mental retardation
DNA testing - CGG repeats

Long face, large ears
Mild retardation
Macroorchidism

46
Q

Rett syndrome

A

Girls 1-2 yo
MECP2

Autistic like behavior
Hand wringing
Regression of developmental milestones
Hyperventilation

47
Q

Peutz Jegher syndrme

A

Autosomal dominant

Mucosal pigmentation of lips, gums
Hamartomatous polyps of intestines

Tx: removal of polyps

48
Q

Pierre Robin syndrome

A

Micrognathia
Glossoptosis, posterior tongue position
Cleft palate

Otitis media, ear abormalities
Cor pulmonale
Syndactyly, clinodactyly
Spinal deformities
Developmental delay, seizures
49
Q

Sturge Webber syndrome

A 
Port wine stain
Developmental delay
Seizure
Hemiplegia
Glaucoma
50
Q

WAGR

A

Wilms tumor
Aniridia
GU abnormalities
Mental retardation

51
Q

Hemihypertrophy & Aniridia

A

WAGR syndrome
Wilms tumor
Beckwith Wiedemann
Russell silver

52
Q

Werdnig Hoffman syndrome

SMA type 1

A

Tongue fasciculations
Absent DTRs
Hypotonia, poor suck

53
Q

Cornelia de Lange

A 
Low anterior hairline
Synophrys
Anteverted nostrils
Microcephaly
Micromelia
Micrognathia

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