deletion of PATernal allele in 15q11-13 (maternal uniparental disomy) - less commonly can result from a translocation

Named disorders Flashcards by Anonymous 1

Sturge Webber

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Stickler Syndrome

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Prader-Willi (physical exam)

dolichocephaly
bitemporal narrowing
“almond-shaped” palpebral fissures
narrow nasal bridge

Cryptorchidism (males)

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Angelman symptoms

hypotonia
severe mental deficiency
ataxia/jerky movements (puppet-like)
increased risk of seizure

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Angelman (physical features)

widely-spaced teeth
large mouth
protruding tongue
decreased iris pigment
deep set eyes
maxillary hypoplasia

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Congenital disorders of glycosylation (physical findings)

microcephaly
abnormal fat distribution (typically in suprapubic, iliac, and buttock region)
inverted nipples
strabismus

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Congenital disorders of glycosylation (systemic issues)

hypotonia
cardiomyopathy
protein-losing enteropathy
hypoglycemia
coagulation anbormalities
seizures

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myotonic dystrophy (appearance)

joint ctroactures
bitemporal wasting
mask-like facies
tented upper lip

*note: Autosomal DOMinant

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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

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Werdnig Hoffman disease aka…

SMA type 1 (presents in early life)

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Frequently the only manifestation of NF-1 in infants and children

Cafe au lait macules

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Prader-Wili genetics

deletion of PATernal allele in 15q11-13
(maternal uniparental disomy)

less commonly can result from a translocation

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Angelman genetics

deletion of MATernal allele in 15q11-13
(paternal uniparental disomy)

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Myotonic dystrophy genetics

trinucleotide repeat

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Smith-Lemli-Opitz characterists/genetics

Autosomal RECessive
defect in cholesterol synthesis

cataracts
2nd/3rd toe syndactuly
anteverted nostrils
genital abnormalities
microcephaly
growth restriction

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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,

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Agenesis of the corpus callosum

Type of abnormal developmental process (generally)

prosencephalic development (ventral induction)

(8-12 weeks gestation)

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Anencephaly

Type of abnormal developmental process (generally)

primary neurulation (dorsal induction)

(3-4 wks gestation)

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Angellman

Type of abnormal neuro developmental process (generally)

neuronal organization

(12 wks gestation to years)

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Arnold Chiari

Type of abnormal developmental process (generally)

primary neurulation

(3-4 wks gestation)

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Autism

Type of abnormal neuro developmental process (generally)

neuronal organization

(12wks gestation to years of age)

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Fragile X

Type of abnormal neuro neudevelopmental process (generally)

Neuronal organization

(beginning 12 weeks gestation through childhood)

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Riley-Day syndrome

autosomal RECessive

familial dysautonomia
d/o of peripheral nervous sytem
diagnosed by pupil constriction in response to metacholine eye drops

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McCune-Albright - tumor risk type

Study These Flashcards

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

Named disorders Flashcards

(59 cards)