Genetic Flashcards
elf like facies, intellectual disabilities and idiopathic hyperCa of infanct
William Syndrome
Heart defect with elf like facies, ID and hypercalcemia in infancy
Supravalvular aortic stenosis
Heart defect in William syndrome
supravalvular aortic stenosis
Other findings of sturge weber
seizures, choroidal vascular malfomration, cutaneous capillary malformation.
PHACE syndrome
posterior fossa abnormalities, segemental hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies
What do you worry about with a congnital vascular malformation of the face (around eye)
glaucoma
Genetic test for PHACE syndrome or Sturge weber
somatic mutation of GNAS that leads to capillary malformation
Caffey disease
infantile cortical hyperostosis
mutation for infantile hyperostosis or caffey disease
COL1A1 single mutation
Caffey syndrome characteristics
fever, irritability, anorexia, soft tissue swelling with subperiosteal cortical thickening of underlying m=bone
fetal hydantoin syndrome
when mom is taking phenytoin
dysmorphic features in infants with mothers taking pheyntoin
orofacial clefts, cardiac defects, GI defects, hypertelorism
findings for fetal alcohol syndrome
IUGR, microcephaly, ocular anomalies, joint anomalies, ID, and short palpebral fissures
findings in infants with retinoic acid exposure
microcephaly, external auditory canal anomalies or micortia, cardiac defects, thymic hypoplasia, facial nerve palsies or GU anomalies
presentation of GSD
hepatomegaly, FTT, hypoglycemic seizures. No response to glucagon
hypoglycemia with urine ketones but no reducing substances
GSD
hypoglycemia with elevated urine reducing substances and elevated ketones
galactosemia
Infants with galactosemia are at risk for what infection
E coli sepsis
Bloom syndrome symptoms
congenital telangiectatic erythema. photosensitivity, severe cheilitis, growth deficiency, primary hypogonadism and inc risk neoplasms
dysmorphic characteristics blooms syndrome
long face with narrow mandible, malar hypoplasia, large protruding ears
voice is high pitched and “bird like” with this condition
blooms syndrome
Features of stickler syndrome
midface hypoplasia, micrognathia, cleft palate, glossoptosis, high myopia and risk for retinal detachment
what is sweet syndrome
acute febrile neutrophilic dermatosis. fever with painful skin lesion on arms, neck, face and back
Apert syndrome characteristics
craniosynostosis, syndactyly, beaked nose, bulging wide set eyes, under developed upper jaw
what tumors are children with beckwith wiedemann syndrome at risk for
wilms tumor and hepatoblastoma
what annual screening do children with beckwith wiedemann need?
annual renal US to look for nephrocalcinosis or medullary sponge kidney
abdominal US every 3 months until 4 years of age
what tumor is von hippel lindau syndrome assoiated with
pheochromocytoma
MEN type 2 is associated with increased risk for what
medullary thyroid carcinoma
Findings in NF1
cafe au lait spots (more than 6), axilary or inguinal freckling, lisch nodules (hamartomas of the iris) >2 neurofibromas, osseous lesions of bones or scoliosis.
Findings in Tuberous sclerosis
ash leaf macules, adenoma sebaceum, periungal fibroms, shagreen patches
heart defect associated with turner syndrome
bicuspid aortic valve
what is incontinentia pigmenti
x linked dominant disorder lethal in males
systemic manifestations of icontinentia pigmenti
dental changes- pegged teeth, nail changes and alopecia. neovascularization of the retina
translucent bluish nonblanching fluctuant sweling lateral to midline of the lower mouth
ranula- anomalous sublingal gland or acquired after trauma
What is a bohn nodule
whitish or clear inclusion cysts that appear as rounded papules along the alveolar ridge in newborns
What do you need to treat hypophosphatemic rickets
phos and calcitriol
Findings of Tuberous sclerosis
benign hamartomas, facial angiofibromas, ash leaf spots, shagreen patch, brownish plaques on forehead. Periungal fibromas, cardiac rhabdomyoma, cortical tubers
genetic defect of Tuberous sclerosis
autosomal dominant gene defects on chromosome 9q or 16q (TSC1 or TSC2) both responsible for tumor suppression
Findings with Peutz- Jegher syndrom
small dark colored spots on lips around and inside mouth. Perianal lentigines.
Polyps in stomach or intestines that can cause obstructions, bleeding and pain
Findings of spina bifida
enlarged head circumference, myelomeningocele, club feet and hydrocephalus usually due to chiari type II
findings of apert syndrome
mitten hand deformity- fused bones with shared nail bed, severe craniosynostosis, bicoronal synostosis associated with maxillary hypoplasia. midfacial hypoplasia- shallow orbits, hypertelorism
Findings of Popliteal pterygium syndrome or Escobar syndrome
extensive pterygiums from knee down to heel with malformed toenails and webbed toes. Dysplasic patella sometimes.
Kallman syndrome fnidings
hypogonadotropic hyogonadism. anosmia, cleft lip and or palate, congenital heart disease, renal agenesis
inheritance of kallman syndrome
x lined autosomal dominant
Skin findings with neuroblastoma
subcutaneous bluish nodules and periorbital ecchymoses associated with proptosis.
Urine findings or neuroblastoma
homovanillic and vanillylmandelic acid
Prune Belly syndrome triad
undescended testes, GU anomalies, partial hypoplasia of abdominal musculature
what is associated with solitary median maxillary central incisor
growth hormone deficiency, sometimes empty sella and pan hypopit
What is associated with central incisor
midline defects like cleft lip and palate, midline structures of brain, falx cerebri, choanal atresia, midnasal stenosism pyriform aperture stenosis
What does CHARGE syndrome stand for
coloboma of eye, heart defects, atresia of nasal choane, retarded growth, genital and or urinary abnormalities and ear abnormalities or deafness
What does VACTERL stand for
vertebral anomalies, anal atresia, CV anomalies, TEF, renal and or radial anomalies, limb defects
Findings of Crouzon syndrome
craniosynostosis, midface hypoplasia, proptosis, normal intelligence, normal hands and feet
Findings of carpenter syndrome
fusions of multiple sutures, syndactyly, intellectual disability, CHD sometimes, corneal opacities
Pfeiffer syndrome findings
bracycephaly, midface hypoplasia, finger/tow abnormalities.
What is Sotos syndrome
cerebral gigantism
Findings of sotos syndrome
macrocephaly, excessive physical growth in early childhood and intellectual disability.
Shwachman-Diamond Syndrome findings
recurrent infections, pancreatic exocrine insufficiency (stinky stools) and neutropenia
mutation in Shwachman diamond sndrome
SBDS fene
What mutations can lead to Kostmann syndrome
HAX1 and ELA2
What are findings of Kostmann syndrome
profound neturopenia
What condition has autoantibodies against neutrophils
chronic benign neutropenia of childhood
What mutation is associate with cyclical neutropenia
ELA2
What is Berger disease
IgA nephropathy
findings of IgA nephropathy on biopsy
mesangial deposits of the glomerulus and gross hematuria following upper respiatory infections or GI infections
Findings with Alport syndrome
bilateral sensorineural hearing loss, gross hematuria
What are C3 levels in IgA nephopathy
normal
IgA deficiency are associated with increased risk of what conditions
celiac disease, IBD, hashimoto thyroiditis, JIA, dermatomyositis, SLE, DM type1
What infection GI wise are those with IgA predisposed for
giardia
Cardiac defects seen in CHARGE syndrome
aoritc arch anomalies, right subclavian artery, VSDs, TOF
what conditions are associated with subluxation of ocular lens
marfan syndrome ane homocystinuria
What heart defect is associated with marfan syndrom
mitral valve prolapse- mid systolic click
findings of treacher collin syndrome
mandibulofacial dysostosis. outer and middle ear malformations– hearing loss. boney hypoplasia, choanal stenosis or atresia, cleft palate with or without cleft lip
palpebral fissues down slanting with hypoplastic lower eyelids and no lower eyelid lashes
Urea cycle disorders
carbomyl phosphate synthetase deficiency and Ornithine transcarbamylase deficiency
Which urea cycle is associated with a low orotic acid
carbomoyl phosphate synthetase
What is the acid base disturbance with urea cycle disorder
respiratory alkalosis
ammonia level in urea cycle disorder
high high like greater than 1000
Metabolic ketoacidosis +/- elevated ammonia with bone marrow depression and cardiomyopathy
propionic acidemia
When does medium chain acyl CoA dehydrogenase deficiency present MCAD
around 2 years of age
When you have MCAD deficiency, what will your urinary substances and ketones be?
no urinary reducing substances and no ketones
Inheritance of fragile X
X linked
Signs of fragile X
macrocephaly, low tone, hypotonia, developmental delays, joint hypermobility, large jaw, prominent ears, macro-orchidism
What causes fragile X
tirnucleotide repeat in FMR1 gene on X chromosome
Karyotype of klinefelters
47XXY
dysmorphic features
bitemporal narrowing, almond shaped eyes
Inheritance of HCM
autosomal dominant
signs of klippel feil syndrome
fusion of more than 2 cervical vertebrae and hypoplastic scapula, double collecting system, horsehoe kidney, low hairline
which cyanotic heart condition does not rely on PDA remaining open
TAPVR
xray shows radiolucency with thin linear fragment of partially attached subchondral bone in the lateral portion medial femoral condyl
osteochondritis dissecans
xray has bone lytic lesion that appears “moth eaten”
ewing sarcoma
describe what a coloboma of the eye looks like
keyhole notch like defect affecting iris, ciliary body, retina, choroid and or optic nerve
findings with hereditary spherocytosis
elevated serum bilirubin, jaundice, splenomegaly, gallstones
SRY encodes for what
sex detemining region Y protein responsible for initiating male sex determination
phenotypic female with 46XY, most likely gene that is defected is?
SRY
what are the trinucleotide repeats of fragile X
CGG
cat like cry mutation
5p deletion for cri du chat
what are other signs of cri du chat syndroe
hypotonia, microcephaly, ID, cardiac defects
Alagille syndrome
pulmonary stenosis, butterfly vertebrae, triangular shaped face, paucity of bile ducts
mutation with alagille syndrome
20p12
deletions associated with wilms tumor
11p13 PAX6 and WT1 genes
What does WAGR syndrome stand for
wilms tumor, aniridia, GU malformations, reduced intellectual abilities
is prader willi deletion of maternal or paternal cop of 15q11-13
paternal
when does duchenne muscular dystophy present?
2-6 years of age
duchene muscular dystrophy inheritance
x linked recessive
Ghent criteria is used for what
used for marfan syndrome
what are the criteria for marfan syndrome
ectopia lentis, aortic dilation or dissection, family history. need 2 of the above 3 for marfan syndrome
what is aplasia cutis congenita
sharply marcated area on scalp without hair and tense membrane with scaley plaque
what is mechanisms of error in patau syndrome trisomy 13
meiotic nondisjunction
aplasia cutis congenita is associated with which trisomy
13
what condition is associated with vascular injury to right umbilical vein or omphalomesenteric artery in fetus
gastroschisis
which abdominal defect is not covered by a membrane
gastroschisis
which umbilical defect is associated with other midline defects
omphalocele
Inheritance of G6PD
x linked recessive. more common in males
What is inheritance of chediak higashi syndrom
autosomal recessive
what are characteristics of chediak higashi syndrome
abnomral melanin distribution with fair skin, light hair and light blue eyes.
dense body of platelets with defective granulocytes
males with recurrent sinopulmonary infections, no tonsils or lymph nodes and absent IgG, IgA and IgM
x linked agammaglobulinemia
ataxia, occulocutaneous telangiectasias and combined immunodeficiency
ataxia-telangiectasia
inheritance kostmann syndrome
autosomal recessive HAX1 gene
gene affected in rett syndrom
MECP2 on x chromosome
small white-gray spots on periphery of iris
brushfield spots- trisomy21
anterior wedging of thoracic vertebrae and schmorl nodes noted on xray
scheuermann disease- juvenile kyphosis
most common TEF type
esophageal atresia and a distal TEF
which two genetic conditions have: short stature, short webbed neck, low set posterior hairline, shield like chest with wide nipples, pectus excavatum, epicanthal folds, increased carrying angles of arms
noonan andturner
Noonan syndrome affects what sex
both boys and girls
heart defect in noonan syndrome
dysplastic pulmonary valve and pulmonary stenosis
mutation with kallman syndrome
ANOS1 at Xp22.3
mutation with noonan syndrome
deletion chromosome 12q
inheritance of wiskott aldrich
x linked recessive
signs of wiskott aldrich
atopic dermatitis, thrombocytopenia, recurrent infections with encapsulated bacteria
Ig levels in wiskott aldrich
low IgM and increased IgA and IgE
G6PD finding on peripheral smear
heinz bodies- inclusions in RBCs
Gene mutation that causes NF2
Merlin on chromosome 22
Findings of NF2
bilateral acoustic neuromas, retinal hamartomas, meningiomas, cranial and peripheral nerve schwannomas
Gene mutation fo NF1
mutation for gene encoding neurofibromin on chromosome 17
Findings in NF1
cafe au lait spots, axillary or inguinal freckling, lisch nodules in the iris, neurofibromas.
pheochromocytoma, malignant peripheral nerve sheath tumor, AML, and optic gliomas are seen sometimes with what genetic syndrome
NF1
LGA infant with omphalocele- what electolyte abnormality do you suspect
hypoglycemia (beckwith wiedemann)
what gene is affected in beckwith wiedemann
IGF-2
Triad of Mccune Albright Syndrome
precocious isosexual puberty, cafe au lait skin lesions, fibrous dysplasia of the bones unilaterally
characteristics Fetal alcohol syndrome
short palpebral fissures, smooth and thin philtrum, thin vermilion border of upper lip, shortened nose associated with midface hypoplasia, maxillary hypoplasia, micrognathia, ptosis, epicanthal folds
what seziure disorder is associated with tuberous sclerosis
infantile spasms
inheritance of hemophilia A and B
x linked recessive= males affected more
what factor deficiency is hemophilia a
8
factor deficiency hemophilia B
9
alacrima, achalasia and adrenal insufficiency is what disorder
Allgrove syndrome
Werdnig Hoffman disease
SMA type 1
what are mirror movements and what condition is associated with this
involuntary movements mirroring contralateral voluntary hand movement- kallman syndrome
findings of x linked adrenoleukodystrophy
symptoms that mimic ADHD, difficulty concentrating, decreased academic performance and learning disabilities
what builds up with x linked adrenoleukodystrophy
very long chain fatty acids
deficiency of galactose 1 phosphate uridyltransferase causes what
galactosemia
deficiency of beta-galactosidase
GM1 gangliosidosis- lysosomal storage disorder
recurrent bacterial serious infections with encapsulated bacteria as an infant
X linked agammaglobulinemia
cafe au lait spots, short stature, absent thumbs and renal anomalies
fanconi anemia
oncologic risk of fanconi anemia
acute myelogenous leukemia
type of anemia in diamond blackfan
macrocytosis
nail patella syndrome characteristics
hypoplastic dysplastic nails, dislocation of patella, UA shows proteinuriaa
triphalangeal thumbs
diamond blackfan anemia
anemia in diamond blackfan
macrocytic RBC with reticulocytopenia. Otherwise normal bone marrow
Findings of Hurlers Syndrome
coarse facial features, frequent URIs, macrocephaly, hernias and thickened heart valves
young infant developmenting slowly with findings of thickened heart valves
Hurler
Hepatomegaly, failure to thrive, evidence of rickets, no hypoglycemia
tyrosinemia
what builds up in tyrosinemia
succinylacetone
acylcarnitine profile diagnoses what
fatty acid oxidation disorders
hypoglycemia without urinary reducing substances and no ketones
fatty acid oxidation
hypoglycemia with urine ketones. no reducing substances
glycogen storage disease
supplementing pyridoxime , you check what level for response?
homocystine
physical exam findings with diamond blackfan anemia
webbed neck, triphalangeal thumbs, snubbed nose, hypertelorism and thick upper lip
3 month old male starting to regress develops dystonia, choreoathitosis, hyperreflexia was diagnosed with CP. bites himeself and developmentally delayeD
lesch nyhan
inheritance lesch nyhan
x linked recessive
urate to creatinine ratio helps diagnose what
lesch nyhan
“Greek warrior” helmet nose, high anterior hairline with prominent glabella, hypertelorism, epicanthus, high-arched eyebrows, downturned mouth, small jaw, and small ears with bilateral ear pits
4- deletion
wolf hirschhorn syndrome
rockerbottom feet
trisomy 18
quad screen in trisomy 21
elevated bHCG and elevate inhibin A
decreased AFP and Estriol
quad screen in trisomy 18
everything is low
quad screen abnormality for neural tube defect or gastroschisis
elevated AFP. all else is normal
test to diagnose primary ciliary dyskinesia
exhaled nasal nitric oxide
name the fatty acid oxidation disorders
carnintine palmitoyltrasnferase I and II deficiency, medium chain acyl CoA dehydrogenase def, short chain, very long chain
mutation causing achondroplasia
fibroplast growth factor 3 FGRF3
inheritance achondroplasia
autosomal dominant
developmental disorder of achrondroplasia
gross motor
infants with heterotaxy syndrome are at increased risk for what?
midgut volvulus or malrotation
intellectual capability with Klinefelters
normal
common extrarenal manifestaion ADPKD
cerebral aneurysm
what enzyme is reduced in Hurler Syndrome
alpha L iduronidase
what enzyme is reduced in Hunter Syndrome
iduronate sulfatase enzyme
hepatosplenomegaly, bone pain and easy bruising and short stature
Gaucher disease
factor deficiency in noonan
Factor 11.
bleeding and thrombocytopenia seen
