Genetics Flashcards
Alport syndrome
- glomerulonephritis
- hearing loss
- eye problems
- esophageal leiomyomatosis
- female genital tract leiomyomatosis
Carney triad
- extraadrenal paraganglioma (retroperitoneal, mediastinal, intraspinal, carotid body)
- GIST (usu gastric, often multifocal)
- pulmonary chondroma
Li-Fraumeni syndrome
P53 mutation
sarcomas (rhadomyo, osteo) early breast cancer CNS (glioma, CPC, medulloblastoma) adrenocortical carcinoma (esp in childhood) leukemia melanoma inc risk of radiation-induced cancers
PHACE syndrome
posterior fossa malf: Dandy Walker hemangioma (infantile): face, subglottic arterial (cerebral) abN: dysplasia, hypoplasia, stenosis, occlusion, aneurysm cardiac abN (VSD), coarctation eye abN sternal clefts, supraumbilical raphe
SAPHO syndrome
synovitis acne pustulosis hyperostosis osteitis
(esp sternoclavicular region & spine)
CHARGE syndrome
coloboma heart defects atresia (choanal) retardation of growth & development genital and/or urinary abN ear abN and/or deafness
Meckel Gruber syndrome
cystic renal dysplasia
occipital encephalocele/holoprosencephaly
postaxial polydactyly
HHT - inheritance pattern
hereditary hemorrhagic telangiectasia
autosomal dominant
McCune-Alright
- polyostotic fibrous dysplasia
- endocrine dysfunction
- sexual precocity
- cutaneous pigmentation (cafe-au-lait spots)
Mazabraud syndrome
- polyostotic fibrous dysplasia
- intramuscular myxomas
Pendred’s Syndrome
- pendrin gene
- 7q31
- enlarged vestibular aqueduct syndrome
- goiter
- autosomal recessive
Gorlin Syndrome
aka basal cell nevus syndrome
- mutations in the PTCH tumor suppressor gene
- auto dominant
- multiple basal cell carcinomas (BCCs)
- odontogenic keratocysts (jaw cysts)
- medulloblastoma
- fused or bifid ribs
- kyphoscoliosis
- macrocephaly
- ovarian fibromas
- palmar and/or plantar pits
- ectopic calcifications of the falx cerebri (dural calcs)
OEIS syndrome
omphalocele
exstrophy
imperforate anus
spinal defects
Williams Campbell syndrome
Congenital cystic bronchiectasis from deficiency of cartilage in 4-6th order bronchi
Caplan syndrome
Rheumatoid arthritis + upper lobe predominant lung nodules
- nodules May cavitate
- can have effusion
Doege Potter syndrome
Not congenital
5% ppl with solitary fibrous tumor of the pleura
Episodic hypoglycaemia
Tumor secretes insulin like growth factor
Gardner syndrome
Auto dominant APC 5q22 Multiple Osteomas Intestinal polyps Dental lesions Fibromatosis Skin lesions Sebaceous cysts and fibromas
CADASIL gene
NOTCH3
Alexander disease gene
GFAP gene
Retinoblastoma gene
RB suppressor gene
Chromosome 13
Osteosarcoma gene as well
BRCA 1
Chromosome 17
More common
Higher risk breast ca women (72%)
Increased risk breast, ovary, GI cancers
BRCA 2
Chromosome 13
Higher risk breast ca males
breast ca women (69%)
Cowden syndrome
Breast cancer
Follicular thyroid
Endometrial
Lhermitte Duclos
screening in cowden syndrome
mammography (most common cancer)
annual thyroid
hereditary diffuse gastric cancer syndrome
gastric cancer 70% (prophylactic gastrectomy)
lobular breast cancer ~40%
Apert’s Syndrome
brachycephaly (coronal synostosis) fused fingers (syndactyly)
Crouzon’s Syndrome
brachycephaly (coronal synostosis) 1st arch structures - maxilla/mandible hypoplasia PDA & aortic coarctation short central long bones (rhizomelia) chiari I malformation
associations with choanal atresia
CHARGE Crouzon's DiGeorge Treacher Collins FAS
CHARGE findings
Coloboma Heart defect Atresia (choanal) Retarded growth GU abN Ear anomalies
PHACES syndrome
Posterior fossa (dandy walker) Hemangiomas Arterial anomalies Coarctation of the aorta, cardiac defects Eye abnormalities Subglottic hemangioma
shwachman diamond
#2 cause pancreatic insufficiency in children fatty pancreatic replacement/lipomatous pseudo hypertrophy diarrhea, short stature, eczema
Alagille Syndrome
- hereditary cholestasis 2/2 paucity intrahepatic bile ducts
- peripheral pulmonary stenosis
Eagle Barrett Syndrome (prune belly)
- deficient abdo musculature
- hydroureteronephrosis
- cryptorchidism
Beckwith Wiedemann (overgrowth)
macroglossia omphalocele hemihypertrophy cardiac big organs wilms hepatoblastoma
WAGR
Wilms
Aniridia
Genital
growth Retardation
Drash
- wilms
- pseudohermaphroditism
- progressive glomerulonephritis
Sotos Syndrome (overgrowth)
- macrocephaly
- CNS stuff
- hypertelorism, elongated forehead
Neuroblastoma associations
NF1
hirschprungs
digeorge
beckwith Wiedemann
Pyknodysostosis
osteopetrosis
workman bones
acro osteolysis
wide/obtuse angle mandible
Klippel Feil
congenital fusion cervical spine
sprengel deformity (high ride scapula)
omnovertebral bone
Gaucher’s
MC lysosomal storage disease big spleen/liver AVN femoral heads H shaped vertebrae bone infarcts Erlenmeyer flask shaped femurs
Currarino Triad
- anterior sacral meningocele
- anorectal malformation
- sacroccocygeal osseous defect (scimitar sacrum)
syndromes associated with male infertility
- pituitary adenoma (prolactin)
- kallman syndrome (can’t smell, infertile)
- klinefelter syndrome (tall, gynecomastia, infertile)
- zinner syndrome (renal agenesis, ipsilat sem vesicle cyst)
- cystic fibrosis
tubrous sclerosis
- autosominal dominant w/ high but variable penetrance
- clinical triad = facial angiofibroma, low IQ, seizures
- SENs, subcortical tubers, SEGA
- renal AML & cyst
- cardiac rhabdomyoma
- retinal astrocytoma
- giant ocular drusen
- cystic LAM
- skin pigmentation defects, facial angiofibroma
carney complex
- cardiac myxomas
- hyperpigmented skin lesions
- extracardiac tumors - pit adenoma, breast fibroadenoma, melanotic schwannoma
association cardiac rhabdomyoma kids
tuberous sclerosis
- often regress spontaneously
jaffe campanacci
- multiple NOF
- cafe au lait macules
- mental retardation
- jaw tumors
- ocular & CV malformations
- cryptorchidism
mazabraud
- fibrous dysplasia
- intramuscular myxomas
maffucci
- multiple enchondromas
- soft tissue hemangiomas/phleboliths
ollier
- multiple enchondromas
CLOVES
congenital lipomatous overgrowth with vascular malformations, epidermal nevi, & skeletal anomalies
Gorham Stout
- vanishing bone disease
- progressive regional osteolysis w/ infiltrative lymphatic malformation & osteoclastic activity
PHACE
posterior fossa anomaly hemangioma arterial anomaly cardiac anomaly eye anomaly
MEN1
pituitary adenoma (MC prolactinoma) parathyroid hyperplasia, adenoma, carcinoma pancreatic tumor (islet cell, MC gastrinoma)
1 letter in MEN1: PiParaPanc
MEN 2A
medullary thyroid carcinoma
pheochromocytoma
parathyroid hyperplasia
1 M, 2 P’s
MEN2A has A’s: Adrenal, Aggressive thyroid Ca, A lot of calcium
MEN 2B
medullary thyroid cancer
mucosal neuromas/ganglioneuroma
Marfinoid habitus
pheochromocytoma
3 M’s, 1 P
gene in GIST tumor
cKIT mutation
