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Pediatrics > Genetic disorders - Autosomal, X linked, Chromosomal > Flashcards

Genetic disorders - Autosomal, X linked, Chromosomal Flashcards

1
Q 
Hypotonia
Short stature
Cat-like cry
Microcephaly
MR
Wide and flat nasal bridge

What is it?

A

Cri du chat syndrome

Deletion of 5p

Other features:

  • moonlike face
  • hypertelorism
  • bilateraly epithcanthal folds
  • high arched palate
  • VSD
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2
Q 
"Greek helmet" facies
Ocular hypertelorism
Prominent glabella
Frontal bossing
Dolichocephal
Hypoplasia of eye socket
Ptosis
Strabismus
Beaked nose
MR

What is it?

A

Wolf Hirschhorn syndrome

Deletion of 4p

Also have:

  • microcephaly
  • bilateraly epicanthal folds
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3
Q 
Hypotonia
Frog like legs
Depressed midface
MR
Belligerent personality
A

18q deletion

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4
Q 
Microcephaly
Flat wide nasal bridge
Low birth wt
FTT
Ocular malformations
Syndactyly
Hypoplastic or absent thumbs
Micrognathia
Severe MR
A

13q deletion

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5
Q 
Hypertonia
Downward slanting palpebral fissures
High palate
Prominent nasal bridge
Low set ears
micrognathia
A

21q deletion

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6
Q

Beckwith-Wiedemann syndrome

  • pathogenesis
  • PE
  • Complications
  • Surveillance
A

Deregulation of imprinted gene expression in chromosome 11

  • Fetal macrosomia
  • Rapid growth until late childhood
  • Omphalocele or umbilical hernia
  • Macroglossia
  • Hemihyperplasia

MUST MONITOR NEWBORN FOR HYPOGLYCEMIA!

Complications:

  • Wilms tumor
  • hepatoblastoma
  • -> Pts with isolated hemihyperplasia are not at risk for Wilms tumor and hepatoblastoma

Surveillancee:

  • serum AFP
  • Ab/renal US
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7
Q

Fragile X syndrome

A

X linked defect
- affects methylation and expression of FMR1 gene

Trinucleotide repeat disorder! (CGG)

#2 cause of genetic MR
#1 cause MR in boys

Autism + MR

Long narrow face
Prominent jaw
Large ears
Macroorchidism
Macrocephaly

Mitral valve prolapse

Joint hyperlaxity + hypotonia

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8
Q

3 yo while girl p/w rectal prolapse

Small for height and weight

Foul smelling bulky stool every day that floats

Repetitive cough

A

Cystic fibrosis

  • AR
  • chr 7 (del of Phe 508)
  • gene codes for CFTR

CFTR:

  • actively secretes Cl- in lungs and GI
  • reabsorbs Cl- from sweat

If can’t secrete Cl- in lungs –> thick mucus cause water doesn’t go there –> plugs lungs and pancreas and liver!

  • morbidity and mortality dependent on rate of progression of lung disease

Characteristics:

  • chronic airway obstruction and infection
  • malabsorb
  • FTT
  • increased salt content in sweat and other secretions

Presentation:

  • meconium ileus
  • salty taste on skin
  • recurrent resp infections
  • malabosprtion
  • nasal polyp
  • rectal prolapse
  • pale stool

Dx:
- increased [ Cl- ] in sweat test via quantitative pilocarpin iontophoresis (will induce sweating so can measure Cl)

Tx:
N acetylcysteine to loosen mucous plugs

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9
Q

Clinical features of cystic fibrosis

A

Respiratory

  • Obstructive lung dz —–> bronchiectasis
  • Recurrent PNA
  • Chronic rhinosinusitis

GI

  • Obstruction –> meconium ileus, distal intestinal obstruction syndrome
  • Pancreatic dz –> exocrine pancreatic insufficiency, diabetes

Repro
- infertility

MS

  • osteopenia –> fx
  • kyphoscoliosis
  • digital clubbing
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10
Q

Freidreich Ataxia

A

AR or AD

Frataxin gene

  • GAA triplet repeats
  • chr 9

Frataxin is mt protein in iron hemostasis

Sx < 10 yo

  • dysarthric speech and nystagmus
  • ataxia
  • absent DTRs
  • skeletal deformities / feet deformities
  • DM

Tx - none

Assoc - HYPERTROPHIC cardiomyopathy!!!!

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11
Q

Lesch-Nyhan

A

X linked

D/o of purine metabolism
- missing hypoxanthine guanine phosphoribosyl transferase (HPRT)

Gives you too much uric acid!

Neuro dysfunction
Motor delay
Self destructive behavior
Choreoathetosis

Dx:

  • HPRA enzyme analysis
  • presence of dystonia + self mutilation

Tx:

  • allopurinol for renal complications
  • behavior mod, restraints
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12
Q

Wilson disease (Hepatolenticular degeneration)

  • genetics
  • signs
  • dx
  • tx
A

AR

Degeneration of basal ganglia 2/2 increased Cu deposition

Parkinsonism signs + liver failure

Starts between adolescence - 40 yo

Kayser Fleischer rings - at limbus of cornea

Dx:

  • Low serum copper
  • Low ceruloplasmin
  • high urine Cu after give penicillamine
  • CT –> hypodense areas in region of basal ganglia
  • MRI –> increased T2 signal in caudate and putamen

Tx:

  • reduce Cu intake
  • D-penicillamine to chelate copper
  • triehtylene tetramine dihydrochloride for pts sensitive to penicillamine
  • zinc sulfate to reduce Cu absorption
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13
Q

Duchenne Muscular Dystrophy

A

X linked RECESSIVE
- deletion of dystrophin gene (helps anchor muscle fibers)

Presents @ 2-3 yo

Sx:

  • poor head control may be 1st sign
  • Calf muscle hypertrophy
  • Gower’s sign, waddling gait
  • proximal weakness

Assoc:

  • Cardiomyopathy **
  • MR

Dx:

  • Increased CPK
  • muscle bx (necrosis, fat cells, fibrous tissue)

Prognosis:

  • wheelchair bound by age 12
  • death by 18 2/2 resp problems
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14
Q

Becker Muscular Dystrophy

A

X linked RECESSIVE

Presents > age 5

Sx:

  • like Duchenne but milder
  • calf pain w/ exercise

Assoc:

  • NO MR
  • Cardiomyopathy

Labs:
- Increased CK but less than DMD

Prognosis:
- Pts ok to walk until early adulthood

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15
Q

Inheritance pattern of ocular albinism

A

X linked recessive

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16
Q

Werdnig Hoffman inheritance pattern

A

Autosomal recessive

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17
Q

Charcot Marie Tooth inheritance

A

Autosomal dominant

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18
Q

Neurofibromatosis inheritance

A

Autosomal dominant

Type 1 –> chromosome 17

Type 2 –> chromosome 22

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19
Q

Tuberous sclerosis

  • core features
  • presentation
  • PE
A

Neurocutaneous syndrome

AD
Ch 9 + 16
– many are new mutations though

Core features:

  • MR
  • facial fibroangiomas
  • hypopigmented spots of skin
  • epilepsy

Presentation:

  • infantile spasms
  • rhabdomyomas of heart –> arrhythmias

PE:

  • ash leaf spots (hypopigmentation)
  • shagreen patches
  • sebaceous adenomas (acne like)
  • retinal hamartomas
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20
Q

Tuberous sclerosis

  • dx
  • tx
  • complications
A

Dx

  • Tubers are characteristic
  • periventricular calcified tubers on CT of head

Tx:
- goal is seizure control

Complications:
- tubers can become malignant astrocytomas

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21
Q

Trisomy 21 (Down syndrome)

A

Usually 2/2 meiotic nondisjunction of homologous chr

Features:

  • hypotonia
  • small stature
  • MR
  • flat occiput
  • upslanting palpebral fissures
  • inner epicanthal folds
  • Brushfield spots (in iris)
  • hypoplastic teeth
  • clinodactyly
  • simian creases
  • wide gap between 1st and 2nd toes

Cardiac:

  • atrioventricular valve defects (endocardial cushion defects)
  • VSD
  • ASD
  • PDA

Skin:

  • dry skin
  • cutis marmorata (red/blue spiderwebs 2/2 cold)

MS:
- Atlantaxial instability

Higher risk for:

  • duodenal atresia
  • atlantoaxial instability
  • ALL
  • alzheimers

Quad screen:

  • decreased AFP, estriol
  • increased b-HCG, inhibin (HI)
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22
Q

Trisomy 18 (Edwards syndrome)

A

2 common trisomy

ELection age = 18

Features:

  • weak cry
  • polyhydramnios
  • MR, growth deficiency
  • micognathia
  • low set ears
  • CLENCHED hands
  • ROCKER BOTTOM feet

Cardiac:
- VSD (#1)

10% survive to 1 yo

Quad screen:

  • decreased AFP, b-HCG, estriol
  • normal inhibin A
23
Q

Trisomy 13 (Patau syndrome)

A

Risks:
- advanced maternal age

Features:

  • midline defects - clefts, scalp defects, microcephaly, HOLOPROSENCEPHALY (failure of forebrain to divide properly)
  • microphthalmia
  • colobomas of iris
  • polydactyly

10% survive > 1 yo

Quad screen:

  • decreased b-HCG, PAPP-A
  • increased nuchal translucency
24
Q

Turner Syndrome

A

XO

Sporadic

Usually is paternal X chromosome that is missing

Features:

  • short stature
  • gonadal dysgenesis
  • congenital lymphedema (resolves)
  • broad chest
  • webbed neck
  • cubitus valgus ( forearm is angled away from the body to a greater degree than normal when fully extended)
  • pigmented nevi

Cardiac:

  • bicuspid aortic vavle
  • coarctation of aorta

Horseshoe kidneys

Need estrogen replacement

25
Kleinfelter syndrome
#1 single cause of hypogonadism and infertility 47 XXY Features: - low IQ - behavior issues - tall + slim w/ long limbs - hypogonadism + small penis - gynecomastia Tx: - testosterone replacement at 11-12 years
26
Achondroplasia inheritance if inherited
AD Cell signaling defect of Fibroblast growth factor receptor 3
27
LEOPARD syndrome
AD Lentigines - small pigmented skin spots that are benign EKG abnormalities - long PR, etc Ocular hypertelorism Pulmonic stenosis Abnormal genitalia (hypogonadism, cryptorchidism) Retarded growth Deafness
28
Waardenburg Syndrome
AD If fresh mutation, assoc w/ older paternal age - Lateral displacement of inner canthi - Severe b/l DEAFNESS - Partial albinism
29
Peutz-Jeghers Syndome
AD But high rate of spontaneous mutation - Pigmentation (lips, oral mucous) - Polyps in jejunum, GI tract - many have intussusception - Polyps have low rate of malignancy - clubbing of fingers seen
30
Ataxia Telangiectasia
Autosomal Recessive Chromosome 11 Ataxia ---> wheelchair by age 10 Telangiectasia @ 3 yo --> usually on bulbar conjunctiva Chronic URI Deficient cellular immunity Higher risk malignancies Death 2/2 serious infections or neuro deficit
31
Ehler Danlos syndrome
Autosomal Dominant Type 4 - autosomal recessive Qualitative collagen deficiency Features: - hyperextensible skin + joints - poor wound healing - MVP
32
Marfan syndrome
Autosomal dominant Fibrillin 1 gene mutation Features: - tall - arachnodactyly (fingers are abnormally long and slender in comparison to the palm of the hand) - kyophosis - pectus excavatum Ocular: - lens subluxation - myopia - RD Cardiac: - dissecting aneurysm of ascending aorta - MVP Normal intelligence Vascular complications are chief cause of death
33
Prader Willi syndrome
Deletion on chromosome 15 - paternal allele is not expressed ``` MR Hyperphagia Obesity Hypogonadism Hypotonia ```
34
Angelman's syndrome
Deletion on chromosome 15 - maternal allele is not expressed MR Seizures Ataxia Inappropriate laughter
35
Uniparental disomy
Offspring gets 2 copies of chromosome from 1 parents, none from the other Most get normal phenotype Consider this when a person gets a recessive DO and only 1 parents is carrier
36
Laurence Moon Biedl syndrome
AR ``` Obesity Retinits pigmentosa Polydactyly Spastic paraplgia Hypogonadism MR ```
37
Variable expressivity
Phenotype varies among ppl w/ same genotype 2 ppl with NF 1 have varying severity
38
Incomplete penetrance
Not all ppl w/ mutant genotype show the phenotype BRCA1 gene mutations don't always get breast cancer
39
Pleiotropy
1 gene gives many different phenotypic effects
40
Anticipation
Increased severity or earlier onset of dz in next generations
41
Linkage disequlibrium
Tendency for alleles at 2 linked loci to occur together more often than by chance Measured in population
42
Locus heterogeneity
Mutations at different loci can produce same phenotype Marfans, MEN 2B , and homocystinuria all cause marfanoid habitus
43
Heteroplasmy
Normal and mutated mt DNA present resulting in variable expression in mt inherited dz
44
Osler Weber Rendu syndrome
Hereditary hemorrhage telangiectasia AD Inherited DO of blood vessels telangiectasia Recurrent epistaxia skin discolorations AVM
45
Von Hippel Lindau disease
AD Deletion of VHL gene on chromosome 3 Hemangiblastomas of retina/cerebellum/medulla Usually get b/l RCC Will activate angiogenic growth factors and constituitive expression of HIF transcription factor
46
Williams syndrome
Deletion of long arm chromosome 7 - has elastin gene on it - Elfin facies - Intellectual disability + well developed verbal skills - HyperCALCEMIA - VERY friendly Supravalvular aortic stenosis common
47
22q1 deletion syndromes
CATCH-22 - Cleft palate - Abnormal facies - Thymic aplasia --> T cell deficiency - Cardiac defects - Hypocalcemia 2/2 parathyroid aplasia Part of syndromes: - DiGeorge - Velocardiofacial syndrome
48
G6PD deficiency
X linked recessive Need NADPH to get glutathione reduced - decreased NADPH in RBC --> hemolytic anemia 2/2 poor RBC defense against oxidizing agents ``` Heinz bodies (Hg precipitated in RBCs) Bite cells ```
49
Shwachman-Diamond syndrome
AR Chromosome 7 Features: - exocrine pancreatic dysfunction, - haematologic abnormalities (neutropenia) - growth retardation Can look like CF but CF doesn't have neutropenia
50
Waardenburg syndrome
AD Characteristics for dx; - sensorineural hearing loss - iris pigmentary abnormality - hair hypopigmentation (white forelock or white hairs at other sites on the body) - dystopia canthorum (lateral displacement of inner canthi) - first‐degree relative previously diagnosed with Waardenburg syndrome
51
Noonan syndrome
AD Characteristics: - pulmonary valve stenosis - hypertrophic cardiomyopathy - short stature, - learning problems, - webbed neck - ptosis
52
Myotonic muscular dystrophy
AD Normal at birth Develop progressive muscle weakenss and wasting, esp in distal muscles of hands Characteristic facial feature: - upper lip in shape of inverted V Myotonia = delayed muscle relax - can't release hand after handshake DM Testicular atrophy Frontal baldness Hypothyroidism
53
Kartegener's syndrome
AR Triad: - situs inversus - recurrent sinusitis - bronchiectasis Due to dysmotile cilia (dyenin arms issue in production or attachment)

Pediatrics (17 decks)

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