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1
Q

In what sex is pyloric stenosis more common?

A

Males

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2
Q

In what sex is cleft lip (with or without palate) more common?

A

Males

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3
Q

In what sex is clubfoot more common?

A

Males

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4
Q

In what sex is Hirschprung’s disease more common?

A

Males

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5
Q

In what sex is Legg-Perthes more common?

A

Males

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6
Q

In what sex are neural tube defects more common?

A

Females

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7
Q

In what sex are diaphragmatic hernia more common?

A

Female

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8
Q

In what sex is cleft palate alone more common?

A

Females

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9
Q

In what sex is scoliosis more common?

A

Females

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10
Q

In what sex is congenital hip dislocation more common?

A

Females

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11
Q

What is likely to be more important for the development of a more severe birth defect/condition?

A

Genetic influence is probably higher in more severe cases

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12
Q

If a multifactorial condition is due to a higher genetic influence, how does that affect recurrence risk?

A

The more genetic influence, the higher the recurrence risk

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13
Q

What is likely to be more important for the development of a birth defect in sex that is usually not affected by that birth defect?

A

Genetic influence/load is probably high if the less-frequently affected sex is affected

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14
Q

What increases recurrence risk for multifactorial conditions?

A

Closely related affected relative

Multiple affected relatives

More severe

Less affected sex is affected

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15
Q

What is the general recurrence risk for multifactorial conditions?

A

3-5%

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16
Q

What syndrome is associated with supravalular aortic stenosis?

A

William syndrome

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17
Q

What syndrome is associated with pulmonary valve stenosis (pulmonic stenosis)?

A

Noonan syndrome

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18
Q

What syndrome is Tetrology of Fallot associated with?

A

22q11.2 deletion

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19
Q

What syndrome is associated with coarctation of the aorta?

A

Turner syndrome

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20
Q

What are some environmental things that can affect birth defect risk?

A

teratogens

pre-existing maternal diabetes

infections

twins

oligohydramnios

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21
Q

What are some things that can indicated a birth defect is syndromic?

A

other dysmorphic features (may be subtle)

severity of birth defect

family history

developmental delays

other birth defects

seizures, major medical issues

Growth (recognize the effects the birth defect itself may have on growth)

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22
Q

What are some features of Saethre Chotzen syndrome?

A

Craniosynostosis (coronal suture)

abnormallly shaped head,

facial asymmetry,

ptosis

webbing between fingers and toes

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23
Q

What gene causes Saethre Chotzen syndrome?

A

TWIST

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24
Q

How is Saethre Chotzen syndrome inherited?

A

Autosomal dominant

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25
What are some features of Goldenhar syndrome?
**Facial asymmetry** **Microtia (abnormal ear)** **ear canal atresia ear tags,** **skin tags** May also have: hydrocephalus scoliosis heart defects renal abnormalities
26
What causes Goldenhar syndrome?
No genes known may be sporadic Never really seen familially
27
What are the features of Van der Woude syndrome?
Cleft lip Cleft palate Cleft lip and palate Lip pits
28
What gene is associated with Van der Woude syndrome?
IRF6
29
How is Van der Woude syndrome inherited?
Autosomal dominant
30
What are the features of Apert syndrome?
craniosynostosis bilateral syndactyly in hands and feet (mitten hands) Midface hypoplasia Breathing issues vertebral fusions cleft palate Pretty dysmorphic
31
What gene is associated with Apert syndrome?
FGF2
32
How is Apert syndrome inherited?
Autosomal dominant, mostly de novo
33
What syndromes are associated with advanced paternal age?
Apert syndrome Achondroplasia
34
What syndrome(s) should you think of when you see an omphalocele?
Beckwith-Wiedemann Trisomy
35
What syndrome is nevus flamus associated with and what is it?
Beckwith-Wiedemann red birthmark on the face
36
What are the features of Sotos syndrome?
Large for gestational age macrocephaly; frontal bossing advanced bone age developmental delay May have heart & renal problems, scoliosis, seizures, and neonatal jaundice Overgrowth syndrome No increased risk for tumors
37
What are the features of Weaver syndrome?
tall stature macrocephaly developmental delay doughy skin joint problems low coordination abnormal cry hernias dysmorphic features
38
What are the features of Simpson-Golabi-Behmel syndrome?
Subernumerary nipples Big (overgrowth) coarse features poly/syndactyly vertebral anomales tumor risk pectus excavatum developmental delays seizures brain malformations
39
What condition should you think of when you see a rhabdomyoma?
Tuberous sclerosis
40
What is the most common genetic cause of Angelman syndrome?
Maternal deletion involving UBE3A
41
What is the recurrence risk for Angelman syndrome?
-Deletion or UPD have a \<1% recurrence risk * as long as parents don't have a rearrangement * germline mosaicism can occur - UBE3A or imprinting center defects have a 50% recurrence risk * Can be inherited from an unaffected parent if they got it from their dad
42
What are features of achondroplasia?
Rhizomelia developmental delay, normal intelligence Relative macrocephaly (hydrocephaly possible), frontal bossing Trident shaped hands Abnormal skin folds hypotonia foramen magnum constriction GERD Kyphosis, lordosis, spinal stenosis flattened midface obstructive apnea hearing loss Average height 4'4" male, 4'1" female
43
What gene is associated with achondroplasia?
FGFR3
44
How is achondroplasia inherited?
Autosomal dominant
45
What are the physical features of Kabuki syndrome?
curved eyebrows large palpebral fissures, downslanting hypotonic mouth protruding ears 5th finger clinodactyly prominent persistent fetal fingertip pads depressed nasal tip
46
How are the majority of cases of Kabuki syndrome inherited?
Autosomal dominant, mostly de novo Can be x-linked
47
What are some heath problems associated with Kabuki syndrome?
GI anomalies (anal atresia) susceptibility to infections seizures feeding problems hearing loss renal anomalies
48
What are the features of LEOPARD syndrome?
Lentigines, cafe-au-lait Ecg conduction abnormalities Ocular hypertelorism Pulmonic stenosis Abnormal genitalia Retardation of growth (short) Deafness (sensorineural) (noonan spectrum)
49
How is LEOPARD syndrome inherited?
Autosomal dominant
50
What are the features of Noonan syndrome?
- Distinctive facial features (hypertelorism, ptosis, prominent forehead, short neck) - Short stature - pectus - heart defect - cryptorchidism - feeding difficulties - disordered breathing - dental overcrowding - easy bruising/bleeding - delayed puberty
51
What kind of disorder is Noonan syndrome and how is it inherited?
Rasopathy Autosomal dominant with incomplete penetrance (30-75% of parents are affected)
52
What are the facial features of Rubenstein-Taybi syndrome?
Downturned palpebral fissures slightly coarse features low handing columella grimacing smile
53
What are the features of Rubenstein-Taybi syndrome?
Broad fingers/thumbs Decrease of size early in life short stature respiratory difficulties failure to thrive Heart defects ID, DD, speech delay Strabismus, cataracts Hyper/hypodontia
54
How is Rubestein-Taybi syndrome inherited?
Autosomal dominant, mostly de novo
55
What are the features of Russel-Silver syndrome?
Prominent forehead Triangular facies Short stature, IUGR normal head circumference Clinodactyly asymmetry abnormal pigmentation/CALs Delays GI disorders
56
What are the features of Smith-Lemli-Opitz?
Narrow forehead ptosis Microcephaly hypotonia short stature, FTT abnormal genitalia/sex reversal in males Malformations of the heart, lungs, kidneys, liver, GI intellectual disability 2,3-toe syndactyly
57
What are the features of 1p36 deletion syndrome?
Intellectual disability, developmental delay, speech limited hearing impairment vision problems seizures heart defects hypotonia, feeding problems CNS & renal abnormalities behavior issues
58
What are the facial features of 1p36 deletion syndrome?
deep set eye pointed chin low set ears hypertelorism midface hypoplasia cleft lip/palate
59
What is the genetic cause of Miller-Dieker Syndrome?
17p13.3 deletion (includes LIS1 gene)
60
What are the features of Miller-Dieker syndrome?
- lissencephaly (smooth brain) * +midline -calcification=pathognomonic) - Intellectual disability (stay around 3-5mos) - seizures - IUGR, FTT, poor feeding, hypotonia - omphalocele or umbilical hernia - heart defects - infantile spasms - breathing problems - bitemporal narrowing, thin vermillion
61
What is the genetic cause of Potocki-Lupski syndrome?
17p11.2 duplication with RAI1 gene duplication of same region as Smith-Magenis
62
What are the features of Potocki-Lupski syndrome?
poor feeding & oral motor skills hypotonia (infancy), FTT DD, ID, speech delay short stature sleep apnea heart defects and disease seizures Autism, OCD, ADD
63
What are the facial features of Smith-Magenis syndrome?
Features progress over time - square shaped face - deep set eyes - tented mouth - dark eyebrows, synophrys
64
What is the cause of Smith-Magenis syndrome?
17p11.2 deletion, including RAI1 gene
65
What is the cause of Williams syndrome?
Deletion (rarely duplication) of 7q11.23
66
What are the features of Williams syndrome?
Heart defect (supravalvar aortic stenosis) stellate iris, periorbital fullness, bitemporal narrowing hoarse voice hernia (inguinal, umbilical) joint laxity, connective tissue abnormalities ID overly friendly FTT, poor weight gain endocrine abnormalities
67
What causes Wolf-hirshhorn syndrome?
4p16.3 deletion
68
What are the features of Tay Sachs disease?
Severe muscle weakness develops around 3-6 months loss of motor skills seizures vision loss hearing loss startled by loud noises intellectual disability paralysis cherry red spot die in childhood
69
What gene is associated with Tay Sachs disease?
HEXA
70
What are the features of Krabbe disease?
Loss of myelin Starts with * irritability, * weakness, * slowed development, * fevers without infection Progresses to * more severe weakness, * stiffness/contractures, * problems eating and breathing Seizures Vision loss If can diagnose before symptoms, can treat with stem cell transplant

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