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Genetics Flashcards

1
Q

Brachial cyst vs thyroglossal duct cyst

A

Thyroglossal duct cyst– midline or near midline (usually moves the tongue movement/swallowing

Brachial cleft cyst– can be anywhere along the neck (more lateral) and even more preauricular, may have an overlying pore or sinus; marsupilization if becomes secondarily infected

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2
Q

Waardenburg Syndrome and mode of inheritance?

A 
Autosomal dominant
White forelock of hair
Albinism (including ocular)
Heterochromia
Deafness
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3
Q

Apert Syndrome and mode of inheritance?

A 
Autosomal dominant 
Early cranial suture closure (long head)
Bilateral syndactyly 
Choanal atresia
Cleft palate

Head shaped like “A PEAR” with duck-like hands; or think of daffy-duck?

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4
Q

Nail Patella Syndrome

A 
Mode of inheritance: Autosomal dominant
Abnormal nails (pitting, ridging, splitting)
Abnormal patella (small, absent, irregular)
Elbow deformities as well (kinda like the patella of the hands)
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5
Q

Noonan’s Syndrome

A

Autosomal dominant
Webbed neck, low set ears
HOCM/ pulmonic stenosis (subvalvular)
Pectus excavatum

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6
Q

Achondroplasia

A

Autosomal dominant
Frontal bossing/macrocephaly
Normal sized torso with short arms and legs
Sudden death cause: compression of the cervicomedullary junction (head is too big for body–memory aid)
Genu varum deformity (bowed legs)
Trident-like fingers– because hand is so small, fingers have to spread far apart from each other like a trident

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7
Q

Peutz-Jeghers Syndrome

A 
Autosomal dominant
AKA hereditary intestinal polyposis 
Hamartomatous GI polyps
Hyperpigmented macules on the lip/oral mucosa
Life-time risk of cancer is increased.
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8
Q

Gardner Syndrome

A

Autosomal dominant
AKA familial adenomatous polyposis
Premalignant polyps throughout the intestine but whole lot of other extras
Extra teeth and tumors in other parts of the body–including bone tumors– needs to be resected

Gardner with extra teeth with all kinds of overGROWTH all over him

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9
Q

Retinoblastoma

A

Autosomal dominant– although high rate of spontaneous mutations, don’t discount just because there is no family history
Increased risk of osteosarcoma
Leukocoria

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10
Q

von Willebrand Factor deficiency mode of inheritance?

A

Autosomal dominant

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11
Q

Acute Intermittent Porphyria mode of inheritance and disease symptoms?

A

Autosomal dominant
Accumulation of metabolite of heme synthesis in the cytoplasm of cells
Abdominal pain, confusion, weakness, photosensitivity
Triggers– infections, hypoglycemia, seizure/sulfa medications
Treat with D10 infusion and stop offending agents.

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12
Q

Retinitis pigmentosa

A

Retinal dystrophy leading to blindness

Multiple modes of inheritance

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13
Q

Tuberous Sclerosis mode of inheritance?

A

Autosomal dominant

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14
Q

Mnemonic for autosomal recessive disorders?

A

PAT HAS WACK GAS in the BACK SEAT of the automobile

Phenylketonuria (PKU)
Alpha-1- Antitrypsin
Tay-Sachs 
Hurler's syndrome
Ataxia Telangiectasia
Sickle cell disease and Thalassemias
Wilson's disease
Alpers Syndrome
Cystic Fibrosis
Kartagener's Syndrome
Galactosemia
A- repeat A's from above
S- repeat S's from above

BACK SEAT of automobile– autosomal recessive

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15
Q

Johanson-Blizzard Syndrome

A

Autosomal recessive

Pancreatic insufficiency
Hypoplasia of nostrils

Scarlett Johansson is holding her pancreas and cannot smell?

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16
Q

X-linked dominant disorders will present in what population of patients?

A

100% daughters of an affected male, does not present in sons (because gets Y chromosome from father)

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17
Q

Familial Hypophosphatemic Rickets is also known as? Mode of inheritance?

A

Vitamin D Resistant Rickets

X-linked dominant

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18
Q

Aicardi syndrome

A

X-linked dominant
Missing corpus callosum
Mental retardation
Infantile spasms, epilepsy

Imagine Cardi-B missing her corpus callosum because she is dumb– memory aid

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19
Q

Alport Syndrome

A

X-linked dominant
Renal disease– hematuria and eventually ESRD
Bilateral sensorineural hearing loss
Vision problems

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20
Q

Fragile X Syndrome

A

X-linked dominant
Trinucleotide repeat disorder
Most common cause of inherited MR
Social awkwardness, macro-orchidism, large ears, prominent jaw

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21
Q

Chronic Granulomatous Disease

A

X-linked recessive
Child is diagnosed with Serratia
Other common bugs (Aspergillus, Candida, E. coli, staph- catalase positive organisms)
Nitroblue Tetrazolium or Dihydrorhodamine testing
Several kinds of abscesses, osteomyelitis

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22
Q

Duchenne Muscular Dystrophy

A

X-linked recessive
Deficiency of the dystropin gene
Poor cough, frequent pneumonias
Weak respiratory muscles– respiratory failure
Gower’s maneuver
CK for screening
Genetic testing for confirmation– if unknown, muscle biopsy
MOP can have elevated CK if she is a carrier and be asymptomatic

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23
Q

G6PD deficiency

A

X-linked recessive
Jaundice, dark urine, hemolytic anemia
Exposure to Bactrim, fava beans, cipro, nitrofurantoin
Mediterranean and African American descent
Heinz bodies–denatured hemoglobin
Check G6PD levels few weeks after acute phase– false negative

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24
Q

Hemophilia A and Hemophilia B

A

X-linked recessive
Factor VIII and IX deficiencies respectively
PTT is increased
Deep bleeds (into joints/muscles)

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25
Hunter's Syndrome mode of inheritance?
X-linked recessive
26
Ornithine Transcarbamylase deficiency mode of inheritance?
X-linked recessive
27
Androgen Insensitivity?
X-linked recessive Testicular feminization (no male external genitalia even though testes/gonads are present) Testes may be found in the inguinal canal Blind ending vagina Lacks of female reproductive organs (ovaries, uterus) May have breasts and no pubic hair?
28
Wiskott Aldrich Syndrome?
``` X-linked recessive Both T and B cell problems Thrombocytopenia or small sized thrombocytes Recurrent infections Eczema IgM low, IgA high Treatment: BMT ```
29
Name the disorder: round face, almond shaped eyes, MR, upslanting palpebral fissures, sandle-toe deformity, simian crease, flattened nasal bridge, macroglossia
Down's Syndrome
30
Name the disorder: atlanto-axial instability, AV canal or VSD heart defect, clinodactyly (incurved pinky finger)
Down's Syndrome
31
True or False: both males and females with Down's Syndrome are infertile.
False. Males with Down's Syndrome are typically infertile, while females with Down's are not.
32
Brushfield spots vs Stellate eyes
Brushfield spots- associated with Down's syndrome, around the periphery of the iris Stellate eyes- Williams Syndrome involves the entire eyes, bursting from the center
33
Trisomy 21 Down's-- risk of recurrence in future pregnancies? What would you see on karyotype of parents?
Mother's age related risk + 1% | Normal parental karyotype, non-dysjunction occurs during miosis
34
Translocation Down's workup
Need parental karyotype to determine risk of future recurrent pregnancies with Down's Chromosome 21 translocated onto chromosome 14 or another chromosome 21
35
Translocation Down's risk of recurrence in future pregnancies?
If t(21q;21q)-- 100% risk of recurrence, because they only have that copy of chromosome 21 to give If t(21q;14q)-- Mom is the carrier: 10-15% risk of recurrence Dad is the carrier: 5% risk of recurrence
36
Presentation of atlantoaxial instability in a down's syndrome patient?
Brisk reflexes, gait disturbances or other neurological symptoms in a Down's Syndrome kid Obtain an X-ray/MRI (preferred) in this kid
37
``` Name the disorder and prognosis? Rocker bottom feet Clenched fists with overlapping fingers Horseshoe kidneys Small jaw (micrognathia) Pectus excavatum ```
Trisomy 18 or Edward's Syndrome | Usually die in utero or survive to 1 years of age
38
``` Name the disorder and prognosis? Punched out scalp lesions Low set ears Cystic kidneys Cleft lip/palate Micro-ophthalmia, microcephaly Polydactyly ```
Trisomy 13 or Patau's Syndrome | Poor prognosis, usually survive to 6 months old
39
Bifid uvula may be an outward sign of what hidden issue?
Submucosal cleft palate | May also have difficulty hearing due to affected tympanic membrane movement.
40
``` Name the disorder: Cocktail party personality Elfin face Low and flat nasal bridge Upturned nose Wide spaced teeth Supravalvular aortic stenosis Peripheral pulmonic stenosis ```
Williams's syndrome | Hypercalcemia
41
Holt Oram Syndrome
Upper limbs and cardiac abnormalities Upper limbs- hypoplastic radius and thumb OR triple jointed thumb Cardiac abnormalities- ASD/VSD
42
Cri-du-chat syndrome, genetic locus?
``` 5p deletion syndrome or 5p minus syndrome High-pitched cry Developmental delay Wide-set eyes High palate ```
43
Crouzon Syndrome
Early suture closure (craniosynostosis) Proptosis Frontal bossing Cleft lip/palate Similar to Apert Syndrome-- EXCEPT LACK OF SYNDACTYLY
44
Angelman Syndrome, genetic imprinting?
``` Happy, laughing frequently Puppet gait-- ataxia Delayed milestones Chromosome 15- missing or defective mom's copy, paternal imprinting (behaves like the paternal allele for the gene) Diagnosed by FISH ``` Father's angel, daddy's girl-- but can be found in boys and girls
45
Prader-Willi Syndrome, genetic imprinting?
``` Hypotonia as a baby, poor feeding Growing up and have an enormous appetite Small phallus Obesity Small hands Almond-shaped eyes Mild retardation Diagnosed by FISH ``` Absence or dysfunction of the paternal copy; maternal imprinting (behaves like the maternal allele for the gene) Mama's boy, feeds him whatever he wants-- but can be found in boys and girls
46
Supravalvular aortic stenosis is associated with which disorder?
Williams Syndrome
47
Laurence Moon Biedl Syndrome features
Similar to Prader-Willi syndrome but PROGRESSIVE Replace Laurence with Insurance Moon-- (OoO) makes you think of eyes (retinitis pigmentosa), small brain (progressive CNS disease), and hypogonadism/hypospadias
48
Beckwith-Wiedemann Syndrome features
``` Macroglossia, macrosomia (large body) Hemihypertrophy Increased risk of Wilms Tumor Mid-line defects (omphalocele/umbilical hernia) Born with hypoglycemia ```
49
Klippel-Trenaunay Syndrome features
AV fistulae Port-wine stain Hemihypertrophy (bone, soft tissues)--especially of a unilateral extremity
50
Hemihypertrophy is found in which disorders?
Beckwith-Wiedemann Syndrome Klippel-Trenaunay Syndrome Russell-Silver Syndrome Proteus Syndrome
51
Smith-Lemli-Opitz and mode of inheritance?
Autosomal recessive Cleft palate, 2-3 syndactyly of toes, extra digits Microcephaly, MR Underdeveloped genitalia in males/hypospadias Cardiac defects
52
Klippel-Feil Syndrome features?
Failure of the cervical vertebrae to clip--> torticollis
53
Proteus Syndrome features?
Hemihypertrophy
54
Pierre-Robin Syndrome features?
Triad of cleft palate, micro/retrognathia, and glossoptosis (retraction and falling back of tongue onto posterior palate because of retrognathia). Concern for airway obstruction, especially with laying supine. High risk for cor pulmonale within the first year of life. Syndactyly/clinodactyly
55
CHARGE syndrome?
``` Coloboma Heart defects Atresia (choanal) Retarded (slowed) growth Genitourinary anomalies Ear anomalies ``` Leading cause of congenital blindness-deafness.
56
Cockayne Syndrome features?
Premature aged appearance, photosensitive skin, dwarfism (slowed growth), vision/hearing problems
57
True or false. The most likely physical manifestation of schwannomas includes bitemporal hemianopsia.
FALSE. Bilateral ACOUSTIC neuromas-- hearing impairment is more likely. Bilateral hemianopsia is associated with a pituitary gland or sella turcica tumor.
58
Name the disorder: facial muscle wasting/atrophy, firm grip with difficulty releasing grip, proximal muscle strength is intact. What is the mode of inheritance of this condition?
Myotonic dystrophy. Autosomal dominant.
59
Name the disorder: port-wine stain along the V1 distribution of the face. What complications is this child at an increased risk for?
Sturge-Weber syndrome-- think of a web of capillaries over the face? Complications- seizures/glaucoma.
60
Name the disorder: at birth infant identified to have a low-lying hairline, redundant nuchal fold and edema of dorsal hands and feet.
Turner Syndrome
61
Noonan syndrome is associated with what kind of hematologic condition?
Bleed diathesis-- usually factor 11 deficiency/thrombocytopenia; frequent bruising
62
Wide carrying angle and hyperconvex fingers nails are associated with what disorder?
Turner Syndrome (also known as cubitus valgus)
63
What are some signs/symptoms of myotubular myopathy in a newborn?
Poor muscle mass (arrest in neonatal muscle maturation), respiratory distress/failure, muscle biopsy shows poorly developed muscle fibers and abnormal nuclei; pharyngeal weakness--> poor swallow--> polyhydramnios
64
Name the disorder: downward-facing epicanthal folds, eyelid coloboma, hypoplasia of significant portion of facial bones (frontal/malar/etc), normal intelligence, retrognathia, lacking eyelashes on the lower lids, malformed ears, poorly formed sinuses, bilateral conductive hearing loss, cleft lip/palate
Treacher-Collins Syndrome
65
Name the disorder: frequent infections, loud/harsh holosystolic murmur at the LLSB, hypertelorism, under-developed philtrum, bifid uvula, velopharyngeal insufficiency.
DiGeorge Syndrome Velopharyngeal insufficiency-- soft palate is supposed to block off nasopharynx from oropharynx during speech/swallow but it doesn't (nasal speech, regurgitation of oral cavity contents into nasopharynx)
66
Mnemonic CATCH 22
For DiGeorge Syndrome Cardiac anomalies (ToF, truncus arteriosus, ASD/VSD) Abnormal facies Thymic aplasia Cleft palate/velopharyngeal insufficiency Hypocalcemia/HypoPTH 22-- chromosome 22 microdeletion
67
Cardiac rhabdomyomas are associated with which syndrome? What neurological manifestations can be seen in this disorder?
Tuberous sclerosis (autosomal dominant). Seizures/infantile spasms.
68
Name the disorder: notable verbal delay, hand-flapping (easily excitable), tremulous movements of the limbs/ataxia, inappropriately laughing/happy, mouth open with frequent drooling and thrusting of tongue. What chromosome is affected?
``` Angelman Syndrome (chromosome 15). Paternal imprinting, loss of maternal gene (daddy's girl-- although can be seen in both boys and girls). ```
69
Name the disorder: axillary freckling, seizure disorder, T2-weighted brain MRI showing multiple bright spots along brainstem/basal ganglia/cerebellum, multiple hamartomas noted on the iris, cortical thinning of long bones
Neurofibromatosis (autosomal dominant) | Multiple hamartomas-- lisch nodules
70
What does WAGR stand for?
Wilms Tumor Aniridia Genitourinary anomalies Retardation (reduced intellectual abilities)
71
Name the disorder: before age of 2 years old, irritable infant with tender bones--especially mandible. Radiography reveals hyperostosis of cortical bone.
Caffey syndrome (infantile cortical hyperostosis). Autosomal dominant with incomplete penetrance. Usually involves mandible, but can involve any bone. Usually resolves by age 2 years old.
72
Name the associated disorder: dome-shaped yellowish brown papules that project from the iris.
Lisch nodules (neurofibromatosis).
73
Name the disorder: prominent forehead, pointed chin, direct hyperbilirubinemia with paucity of bile ducts, hepatomegaly, butterfly vertebrae
Alagille syndrome
74
Name the disorder: puffy eyes, full or wide mouth, cocktail party personality.
Williams syndrome
75
Name the disorder: FTT, long eyelashes, micrognathia, downward turn upper lip, unibrow, hirsuitism
Cornelia de Lange syndrome
76
Name the syndrome: neonate who presents with hypocalcemic seizures.
DiGeorge syndrome
77
Name the syndrome: neonate with intracranial hemorrhage, thrombocytopenia and absent radius.
TAR (thrombocytopenia with absent radius) syndrome
78
There is a 5-15x increased risk of Celiac disease in patients with what genetic disorder?
Down's Syndrome
79
Pseudarthrosis/cortical long bone thinning leading to anterolateral bowing of the tibia with pathologic fractures or sphenoid dysplasia is associated with what disorder?
Neurofibromatosis
80
What is transient leukemia?
Leukemia where blast cell population in the blood exceeds that in the bone marrow, seen in Down's syndrome. Usually resolves within 3 months or so without intervention. Although increased risk for AML in the future.
81
Name the disorder: doughy consistency skin, poor wound healing, mitral valve prolapse, easy bruising.
Ehlers-Danlos syndrome.
82
What is Stickler syndrome?
A group of genetic disorders that affects connective tissue. Tends to be associated with Pierre-Robin sequence.

Pediatric Boards (19 decks)

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