Named disorders Flashcards
Sturge Webber
Stickler Syndrome
Prader-Willi (physical exam)
dolichocephaly
bitemporal narrowing
“almond-shaped” palpebral fissures
narrow nasal bridge
Cryptorchidism (males)
Angelman symptoms
hypotonia
severe mental deficiency
ataxia/jerky movements (puppet-like)
increased risk of seizure
Angelman (physical features)
widely-spaced teeth
large mouth
protruding tongue
decreased iris pigment
deep set eyes
maxillary hypoplasia
Congenital disorders of glycosylation (physical findings)
microcephaly
abnormal fat distribution (typically in suprapubic, iliac, and buttock region)
inverted nipples
strabismus
Congenital disorders of glycosylation (systemic issues)
hypotonia
cardiomyopathy
protein-losing enteropathy
hypoglycemia
coagulation anbormalities
seizures
myotonic dystrophy (appearance)
joint ctroactures
bitemporal wasting
mask-like facies
tented upper lip
*note: Autosomal DOMinant
SMA findings (prenatal form - type 0 vs type 1)
Type 0 (prenatal):
- multiple joint contractures
- generalized weakness at birth
Type 1 (early life)
- hypotonia, wekaness
- mild contractures of large joints
- absent deep tendon reflexes
- tongue fascinations
*deterioration in survival motor neurons leads to motor delays and often early death due 2/2 respiratory compromise
Werdnig Hoffman disease aka…
SMA type 1 (presents in early life)
Frequently the only manifestation of NF-1 in infants and children
Cafe au lait macules
Prader-Wili genetics
deletion of PATernal allele in 15q11-13
(maternal uniparental disomy)
- less commonly can result from a translocation
Angelman genetics
deletion of MATernal allele in 15q11-13
(paternal uniparental disomy)
Myotonic dystrophy genetics
trinucleotide repeat
Smith-Lemli-Opitz characterists/genetics
Autosomal RECessive
defect in cholesterol synthesis
cataracts
2nd/3rd toe syndactuly
anteverted nostrils
genital abnormalities
microcephaly
growth restriction
Lissencephaly (what and when)
2 types
d/o of neuronal migration
during 12th-24th week
(often diagnosed after 26-28wks)
smooth cerebral cortex
a/w microcephaly, ventriculomegaly, widened Sylvian fissures
complete or partial agenesis of corpus callosum
Type 1 a/w facial dysmorphism
Type 2 a/w:
- Walker-Warburg - cerebrospinal-ocular dysplasia, hydrocephalus, cerebral malformations
- Miller-Dierker - facial dysmorphism, growth restriction,
Agenesis of the corpus callosum
Type of abnormal developmental process (generally)
prosencephalic development (ventral induction)
(8-12 weeks gestation)
Anencephaly
Type of abnormal developmental process (generally)
primary neurulation (dorsal induction)
(3-4 wks gestation)
Angellman
Type of abnormal neuro developmental process (generally)
neuronal organization
(12 wks gestation to years)
Arnold Chiari
Type of abnormal developmental process (generally)
primary neurulation
(3-4 wks gestation)
Autism
Type of abnormal neuro developmental process (generally)
neuronal organization
(12wks gestation to years of age)
Fragile X
Type of abnormal neuro neudevelopmental process (generally)
Neuronal organization
(beginning 12 weeks gestation through childhood)
Riley-Day syndrome
autosomal RECessive
familial dysautonomia
d/o of peripheral nervous sytem
diagnosed by pupil constriction in response to metacholine eye drops
McCune-Albright - tumor risk type
at risk for pituitary ademomas
NF tumor types
neurofibromas
schwanomas
pheochromcytomas
Von- Hippel-Lindau risk of what tumors
intracranial tumors
retinal angiomas
pheochromocytomas
VACTERL association
V - vertebral anomalies
A - anal atresia
C - cardiovascular anomalies
T - TEF
E - esophageal atresia
R - renal anomalies
L - limb defects
Noonan
Autosomal dominant
Hypertrophic cardiomyopathy
Pulmonic stenosis (60%)
Hypertelorism
Downward slanting palpebral fissures
Low-set ears
Short webbed neck
Short stature
Pectus excavatum
Cryptorchidism
Cognitive deficits
Bleeding disorders
Lymphedema
A/w hypertrophic cardiomyopathy
Noonan*
Beckwith-Wiedemann
Tri 21
Costello (fasciocutaneoskeletal sydrome)
Eagle-Barrett (prune-belly syndrome)
genetic d/o w/ “punched out” scalp lesions
Tri 13
(cutis aplasia)
Tri 13
Brain - holoprosencephaly
- scalp lesions** cutis aplasia
Ears - low set
Polydactly
Polydactly
Cystic kidneys
Neutrophils with unique nuclear projections
Tri 18
seizures
clenched fist
*overlapping fingers
hypoplastic nails
rocker bottom feet
prominent occiput, microcephaly
micropthalmia
low set malformed ears
horseshoe kidney
cardiac lesions
Cri du Chat chromosome
5th
- partial deletion short arm of Ch 5
- deleted portion is paternal 80% of de novo events
Cri du chat cardiac
30%
VSD
PDA
ToF
thumb hypoplasia
colobomas
microcephaly
high nasal bridge
large ears
short big toe
13q deletion
also:
CHD
increased risk of retinoblastoma (bilateral)
ptosis
cryptorchidism, hypospadius
Greek warrior helmet
(broad beaked nose, high forehead, hypertelorism, supraorbital ridge continuous with nasal bridge)
Wolf Hirshorn
4p deletions syndrome
also: low set simple ear with pre auricular dimple
seizure, severe cognitive deficits
cardiac
GU - hypospad/cryptorchidism
elfin facies
upturned nose, depressed nasal bridge
long philtrum
hypercalcemia
SUPRAvalvular aortic stenosis
Williams
“cocktail party personality”
hypoplastic nails
prominent lips
hoarse voice
stellate iris pattern
enamel hypoplasia
Most common chromosomal deletion in humans
22q11.2
1 in 4000 live births
AD
Rubenstein-Taybi
16p13
- encodes cAMP regulated enhancer binding protein (CREB)
- sporadic
*1/4 submicroscopic deletion (some point mutations)
Broad thumbs
broad first toes
downward palpebral
hypoplastic maxilla
narrow palate
beaked nose
long eyelashes (no synophrys)
Rubenstein-Taybi
also eyes stuff, ear stuff, 25% have heart stuff
hirsutism, keloid
increased risk of tumors
WAGR
11p13 deletion
usually de novo
W - Wilms tumor (50%)
A - Aniridia
G - Genitourinary
R - Retardation (mod to severe mental deficiency)
Cardiac in Williams
Supravalvular subaortic stenosis
pps
VSD
AST
Coarctation
Chediak-Higashi
abnormal neutrophil degranulation
leads to partial oculocutaneous albinism
nystagmus
peripheral neuropathy
recurrent infections
Duration of treatment for asymptomatic lab negative neonate i/s/o maternal primary HSV infx (active lesions)
10 d acyclovir
rash
lymphadenopathy
oligoclonal T-cells
atypical complete DiGeorge
(complete thymic aplasia)
tx:
steroids (to suppress oligoclonal T-cells)
thymus transplant
Lowe syndrome
X-linked recessive
d/o of enzymatic function of golgi
aka oculocerebrorenal syndrome
eyes - cataracts, glaucoma
nervous - hypotonia, areflexia, severe MD
renal - tubular dysfunction, nephrotic syndrome
repro - cryptorchidism
fetal dx:
elevated maternal + amniotic AFP
increased nucleotide pyro-phosphate in skin fibroblasts
triangular facies
protruding ears
large eyes + strabismus
drooping mouth
Bartter’s syndrome
- defects in thick ascending LOH
–> low K, met alkalosis, high urine Ca
—> salt wasting/dehration
Only X-linked muchopolysaccharidosis
Hunter
Cat-eye syndrome
anal atresia
coloboma
extra part of Ch 22
encephaloceole
polydactyly
cystic dysplastic kidney
Meckel-Gruber
hypotonia (upper and lower extremities)
high forehead
flat orbital ridge
flat nasal bridge
hepatomegaly
calcifications in popliteal area
elevated very long chain FA
Zellweger Syndrome
aka
cerebro-hepato-renal syndrome
Autosomal RECessive
absence of hepatic and renal peroxisomes
persistent diarrhea
failure to thrive
scaly eruption
+
eosinophilia
SCID
upper limb defects
absent/abnormal thumbs
narrow shoulders
hypertelorism
______ heart defect
Holt-Oram
ASD
hypotonia
macroglossia
hepatomegaly
comfortably tachypneic
cardiomegaly
Pompe
Type II Glycogen Storage disease
lysosomal a-glucosidase deficiency
*creatinine phosphokinase extremely elevated
Elevated in Smith-Lemli-Opitz
7-dehydrocholesterol levels
(error in 7-dehydrocholesterol reductase)
intra-abdominal anomalies with Beckwith-Wiedemann
Wilms tumor
adrenal carcinoma
gonadoblastoma
hepatoblastoma
omphaloceole
