1
Q
McCune Albright Triad
A
- TRIAD of polyostotic fibrous dysplasia, hyperpigmented macules and poly endocrinopathy
2
Q
What are you at risk for in mccune albright
A
- At risk for adrenocortical tumors
3
Q
What type of precocious puberty in mccune albright
A
- Gonadotropin independent precocious puberty
4
Q
Gene for mccune albright
A
GNAS
5
Q
How is Rett Syndrome inherited
A
X-linked disease
6
Q
Mutations for Rett Syndrome
A
- Caused by mutations in MECP2 gene on x chromosome
7
Q
Hallmark of Rett
A
Hallmark is repetitive hand wringing motions and a loss of purposeful and spontaneous movements of the hand, may not appear until age 2-3
8
Q
Cause of death in Rett syndrome
A
Arrhythmias
9
Q
How is Sturge Weber inherited
A
Sporadic
10
Q
Gene for Sturge Weber
A
DNAQ gene
11
Q
Findings in Sturge Weber
A
- Port wine stain tends to be unilateral and ipsilateral to the brain involvements
- Bupthalmos and glaucoma the ipsilateral eye are common complications
- Seizures occurring in 75-80% of patients and in over 90% of those with bilateral brain involvement
Early onset of seizures will likely occur during the first year of life but rare during 1 st month of life
12
Q
What side are sturge weber seizures on
A
- Typically focal clonic and contralateral to the side of the facial capillary malformation
13
Q
Syndromes with port wine stain
A
Sturge wbere, klippel trenaunay, parkes wber, proteus, BWS, von hippel lindau
14
Q
Types of Sturge Weber
A
○ Type 1- both facial and leptomeningeal angiomas present, may have glaucoma
○ Type 2- Facial angioma alone (no CNS involvement) may have glaucoma
Type 3 isolated leptomeningeal angiomas, usually no glaucoma
15
Q
Lesch Nyhan inhertiance
A
x-linked recessive
16
Q
Lesch Nyhan clinical manifestation
A
Clinical manifestations include hyperuricemia, ID, dystonic movement disorder that may be accompanied by choreoathetosis and spasticity, dysarthric speech and compulsive biting usually beginning with eruption of teeth
17
Q
Incontienentia Pigmenti inheritance
A
- X-linked, males usually die, so mostly females
18
Q
CBC finding in Incontinentia pigmenti
A
Eosinophilia
19
Q
Stages of incontinentia pigmenti
A
- 1st stage resolved by 4mo of life
- 2nd stage- blisters on limbs dry and resolve, become dry and hyperkeratotic forming verrucous plaques
- 3rd pigmentary stage is hallmark, develops over weeks to months, 1st few months of life get hyperpigmentation on the trunk more than limbs in macular whorls, reticulated patches, flecks and linear streaks
○ Lesions stay until about age 16
○ Classically in axilla and groin
4th stage is atretic - hairless, anhidrotic hypopigmented patches
20
Q
Denys Drash presnetation
A
Patients present with early nephrotic syndrome, progressive renal insufficiency, ambiguous genitalia and wilms tumors
21
Q
Frederich ataxia inheritance
A
- Autosomal recessive condition of spinocerebellar tracts, dorsal columns
GAA trinucelotide repeat
22
Q
Type of disorder x-linked adrenoleykodystorphy
A
peroxismal disorder
23
Q
Presnetation x-linked leukodystorphy
A
○ Presents between 4-8
○ Initial manifestations are ADHD and worsening school performance
○ Auditory discrimination is often impaired
○ Disturbances of vision, ataxia, poor handwriting, seizures and strabismus
○ Progresses rapidly
Vegetative state by 2 years
24
Q
What do you need to check for in boys with addisons
A
very long chain fatty acids for x-linked leukodystorphy
25
Ataxia telangectasia inheritance
AR
26
First trimester screening false positive rate in T21
5%
27
Name genetic conditions with cafe au lait spots
NF1, NF2, Fanconi anemia, Russel Silver Syndrome, Noonan Syndrome, Blom suyndrome, TS, McCune Albright
28
5 craniosynostosis syndromes
Apert, Pfeffer, Crouzon, Saethre Chotzen, Muenke
29
Most common suture for craniosynostosis
sagittal suture
30
associated problems with craniosynostosis
coanal atresia, hearing loss, developmental delay
31
3 syndromes requiring PSG before 1 year
CCHV, achondroplasia, prader willi
32
Cocaine teratogen affects
prematurity, low birthweight,limb deficiency, intestinal atresia, ABRUPTION for HTN
33
Alcohol teratogen
growth deficiency, delay, microcephaly, characteristic facies, cardiac defects (MOST COMMON ASD/VSD)
34
Warfrain teratgoen
optic nerve atrophy, CNS problems, stippled epiphyses
35
Retinoids teratogens
blindness, deafness, microtia, CHD, corticla and cerebellar defects
36
Phenytoin teratogen
cases fetal hydrantoin syndrome
microcephaly, celft lip, MR, hypoplastic nails, hypoplastic distal phalanges
37
maternal diabetes teratogen
caudal regression (sacral agenesisis esp in type 1/2 poor control), arthrogryposis, duplex ureter, NTD, small left colon syndrome, hypertrophic cardiomyopathy (resolves over time)
38
facies in FAS
smooth philtrum, thin vermillion border, small palpebral fissures
39
PKU teratogen effects
IUGR, microcephaly, congenital hart disease, hyperactivity
risk ue to mothers metabolic control and is independent of wehther the fetus has PKU
40
syndromes with risk of hirschsprungs disease-
T21, CCHV, Wardenburg
SLO
41
FBN1 gene
marfan
42
FRAX gene
Fragile X
43
TSC1 and TSC2
TS
44
CFTR gene
CF
45
DMD gene
Ducehnne
46
Trisomy 13
1/1200 live births
Deafness, seizures, apenic spells, holoprosencephaly, hypotonia, low ID, microcephaly, micropthalmia, coloboma, low set ears, polydactyly, club foot, VSD, PDS, ASD, dextroposition, cryptorchidism, omphalocele, polycystic kidney, hydronephrosis, horseshoe kidney
Cutis aplasia
47
what syndrome do you get cutis aplasia in
T13
48
T18
IUGR, hypertonia, severe ID, micropthalmia, prominent occiput, small mouth, micrognathia, overlapping fingers, rockerbottom feet, VSD and PDA most common, meckels
49
Risk for passing on T21 if mother vs father have trnaslocation
10-15% for mother, only 2% if father carrier
50
How many patients wiht T21 have acrdiac involvement
50%
51
What to do at birth in T21
eye exam, hearing test, echo, TSH and CBC
52
What to do T21 1-5 years
watch for AOM, eye exam annually, TSH annually, x-rays for subluxation if symptomatic
53
When should you have OSG in T21
By age 4
54
Surveillance Turner syndrmoe
renal ultrasound, echo, yearly TSH, optho, developmental follow up and metabolic screen in adolescent years
55
CATCH 22
DiGeorge (cardiac, abnormal facies, thymus hypoplasia, cleft palette, hypocalcemia)
56
Digeorge clinical ft
higher risk of schizophrenia, speech delay, normal to moderate ID, conotuncal defects (interrupted aortic arch, truncus), TOF, ASD, coarc, hyopcalcemia, recurrent sinopumonary infections due to SCID
57
Williams Syndrome gene
Defect in elastin gene
58
Clinical fts williams syndrome
elfin facies, broad forehead, flat nasal bridge, short nose, full lips, wide mouth
impaired cognition, Cocktail party personality, SNHL, strabismus, supravalvular aortic stenosis, pulmonary rteri stenosis, renal artery stenosis, hypertension, hypercalcemia, short stature, subclinical hypothyroidism, joint laxity, prolapse
59
Starburst eye pattern
williams syndrome
60
WAGR syndrome gene
11p13
61
WAGR syndrome
Wilms tumor, aniridia, GU abnormalitis, retardation
62
4pdeletion syndrome
WolfHirschorn syndrome
63
WolfHirschorn syndrome
greek warrrior helmet face, hypertelrosimm high arached eyebrows, epicanthal folds, downturned corners of mouth
64
Wolf Hirschon clinical ft
microcephal, ID, CHD, resp infesction due to recurrent aspiration, feeding difficulties arecommon
65
Achondroplasia gene
FGFR3 gain of function
66
achondroplasia mode of inheritance
AD
67
Achondroplasia clinical ft
rhizomelic (long bone shortening tha affects proximal more than lower), macrocephaly, hyposcoliosis, lumbar lordosis, saddle nose deformity, midface hypoplasia, bow legs
cergical medullary compression so NEED MRI by 1 year , recurrent OM, obesity, normal intelligence nad life span
68
Marfans inheritance
AD
69
MArfans clinical ft
scoliosis, tall thin body, arachnodactyly, pectus excavatum/carinatumpes planus, joint laxity, normal cognition, mala hypoplasia, ectopia lentis (upward and temporally), high arached palte, pneumothroax risk, aortic root dilation, mitral valve prolapse, protrusio acetabuli
70
ectopia lentis
marfan
71
Homocystinuria
marfanoid body habitus, severe myopia/ectopia lentis altough lens goes DOWNWARD rather than UPWARD, ID, thromobtic events, stroke
72
Trinucleotide repeat disorders
Huntington, myotonic dystrophy and fragile X sundrome
73
Ataxia telangectasia inheritance
autosomal recessive condition
74
when does ataxia start in ataxia telangectasia
2, loss of ambulation by adolesnce
75
Prader willi inheritance
prader misses pap
lack of expression of PATERNALLY inherited chromosome 15q11
76
syndromes assoc with chromsome 15q11
prader willi, angleman
77
most common form of syndromci obesity
prader willi
78
clinical ft prader willi
- Small hands and feet, almond shaped eyes, narrowed bifrontal diameter, thin upper lip
Hypotonia, poor suck
- Neonatal hypotonia, GDD, ID, sleep disturbance, 25% epilepsy, tantrums, skin and rectal picking, OCD
- OSA
- Feeding problems in infancy the weight gain after
- Hypogonadism, cryptorchidism
- GH deficiency, obesity
Scoliosis
79
criteria for macules in NF1
NF1= 6 or more spots >5mm in diameter in prepubertal patients or 6 or more >15mm in diameter in post-pubertal patients
80
Russel Silver clinical ft
- Severe IUGR and postnatal growth restriction
- Mild DD in 1/3
- Large head in relation to body size
- Prominent forehead, triangular face, downturned corners of mouth
- Sleep disordered breathin
- Majority of infants have feeding difficulties, low birthweight
Short stature
81
Wardenburg mutation
PAX-3
82
Wardenburg inheritance
AD
83
Wardenburg clinical ft
- White forelock, heterchromia
- Wide nasal bridge, short palpebral fissues
SNHL, Hirschsprung disease
84
intracranial tumors in NF
Aside from optic gliomas, astrocytoma of the cerebrum, brainstem and cerebellum are the most common intracranial tumors
85
Diagnosis of NF1 criteria
2 or more of the following:
§ 6 or more café au lait macules >5mm in prepubertal and >15mm in post-pubertal. CALMs are hallmark of NF and are present in almost 100% of patients. They are present at birth but increased in size and number and pigmentation, esp during first few years of life
§ Axillary or inguinal freckling consistently of multiple hyperpigmented areas 2-3mm in diameter. Appears between 3-5 years of age
§ Two or more iris Lisch nodules which are hamartomas located within the iris and best identified on slit lamp examination. Prevalence increases with age
§ Two or more neurofibromas or one plexiform fibroma
§ Distinctive osseous lesions such as sphenoid dysphasia or cortical thinning of long bones
§ Optic gliomas are the most frequently observed CNS tumor in NF1, need annual optho examinations
A first degree relative with NF12
86
What malignancy are you at risk for in NF1
JMML
87
Lisch nodules
NF1- iris hamartomas
88
Do you do routine imaging in NF1
No
89
Tuberous sclerosis inheritance
AD
90
TS genes
TSC1 and TSC2 encoding hamartin and tuberin
91
TS clinical ft
- CNS: Seizures, infantile spasms, 50% have some ID, ASD, ADHD, LD, Anxiety
- H/N: retinal lesions
- Renal: angiomyolipoma
Cardiac: rhabdomyoma
92
What condition do you get rhabdomyoma in
TS
93
Beckwith Weidmen chromosome
uniparentla disome for chromosome 11p15
94
Clinical ft Beckwith
- Omphalocele, umbilical hernia, diastasis recti
- Macroglossia
- Macrosomia
- Hemihyperplasia
- Anterior linear ear lobe creases/posterior helical ear pits
- Visceromegaly --> liver, spleen, kidneys, adrenal gland, pancreas
- Facial nevus simplex, midface hypoplasia
- Cardiomyopathy (rare)
- Nephromegaly, nephrocalcinosis, medullary sponge kidney
Neonatal hypoglycemia, hypothyroidism
95
Risk for tumors in Beckwith
7.5%
96
Screening in Beckwith
- AFP- every 3 months until 4 years old for hepatoblastoma
AUS every 3 months until age 8
97
Noonan inheritance
AD
98
Noonan ft
- Short stature, triangular face
- Hypertelorism, down slanting palpebral fissures (T21 is upwards)
- Low set ears, webbed neck, can see increased nuchal translucency on prenatal ultrasound
- CNS: mild ID, ASD, ADHD, seizures
- Cardiac: Pulmonary stenosis, Hypertrophic cardiomyopathy
- Endo: delayed puberty, GH deficiency, hypothyroid
- Heme: JMML, FX1 deficiency, lymphedema
Renal: renal ectopia, structural abnormalities, cryptorchidism
99
Noonan heart things
PS, hypertrophic cardiomyopathy
100
Malignancy risk in Noonans?
JMML
101
Williams heart thing
supravalvular AS
102
Combination of supravalvular aortic stenosis with pulmonary arterial branch stenosis, idiopathic hypercalcemia of infancy, elfin facies and ID
williams syndrome
103
Gene williams
deletion 7q11
104
clinical ft williams
- Round face with full cheeks and lips, long philtrum, stellate pattern in iris, strabismus, supravalvular aortic stenosis and other cardiac malformations, carrying degrees of ID, friendly personality, recessed nasal bridge
- Elfin facies
- Fibromuscular dysplasia
- Subclinical hypothyroidism
- Feeding difficulties, slow growth, elfin facies, renovascular disorders, cocktail personality
Cardiac lesions include supravalvular aortic stenosis, peripheral pulmonic stenosis, aortic hypoplasia, coronary artery stenosis and ASD or VSD
105
Carbamazepine teratogenicity
- Spina bifida, craniofacial defects and CV malformations
106
where is x usually from in turners
mom
107
Screening in Turnders
- Should check TPO antibodies and thyroglobulin antibodies regularly, if positive measure TSH and T4
- Celiac at age 4 and repeated every 2-5 years
- No GH deficiency evidence
Treatment
108
Treatment in Turners
○ Can treat with GH to increase heigh velocity in most
○ Have to monitor ILGF-1 on GH
○ Can result in excessive growth of hands and feet
○ Replacement therapy with estrogen is indicated to improve growth at 12-13
Estrogen therapy improves memory
109
Gene achondroplasia
FGFR3
110
INheritance achondroplasia
AD
111
Fragile X clinical ft.
- Long narrow face, large ears
- Testicular enlargement after age 8
- Macrocephaly
- CNS: ID, LD< delayed attainment of motor and language milestones, ADHD, ASD, seizures, late onset tremor and ataxia
- Development: gaze avoidance, perseverated speech
- Strabismus
- Mitral vale prolapse
- Flexible feet, mild connective tissue disorder
Testicular enlargement
112
Angleman gene
Lack of expression of MATERNALL inherited chromsome 15q11
113
Angleman clinical ft
- Wide mouth, protruding tongue, widely spaced teeth
- Severe ID, postnatal microcephaly, gait ataxia, seizures, altered sleep cycles
- Frequent bouts of laughter but have anxiety
- Happy puppets
- Constipation, reflux, cyclic vomiting, EoE
Obesity
114
Cornelia de Lange
- Sproadic, AD
- Hirsutism
Upturned nose, ulnar dysplasia, microcephaly, ID, FTT
115
Smith Lemli Opitz inheritance
AR
116
Smith Lemli opitz clinical ft.
- Microcephaly, ptosis, anteverted nares
- Polydactyly
- 2-3 toe syndactyly
Severe ID
117
What syndroem do you have 2-3 toe syndactyly
smith-lemli-opitz
118
PHACE syndrome
- Posterio fossa malformations
- Hemangiomas
- Arterial lesions
- Cardiac abnormalities
Eye abnormalities
119
Criteria for PHACE screening
Segmental hemangioma of face or facial hemangioma >5cm2 should have work-up with MRI, echo and ocular exam
120
Treacher Collins inheritance
AD
121
What are associated with congenitla hypoventilation
Hirschsprungs and neural crest tumors
122
gene for congenital hypoventilation
PHOX 2B
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