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AJT Special > SPECIAL - Syndromes > Flashcards

SPECIAL - Syndromes Flashcards

1
Q

Von Hippel-Lindau disease

A

AD, chromosome 3; RCCs (clear cell), renal cysts, pheochromocytomas, pancreatic islet cell tumors, serous cystadenomas (pancreas), pancreatic cysts, liver cysts, hemangioblastomas (brain, cord), endolymphatic sac tumors, choroid plexus papillomas

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2
Q

Tuberous sclerosis

A

spontaneous and AD, chromosome 16; multiple AMLs, renal cysts, cardiac rhabdomyomas, cortical hamartomas (tubers), subependymal nodules, SEGAs, lymphangioleiomyomatosis; seizures, developmental delay

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3
Q

Down syndrome

A

endocardial cushion defects/ASD/VSD, echogenic bowel, duodenal atresia, calcified papillary muscle, Hirschsprung’s, omphalocele, DDH; mental retardation, early Alzheimer’s; increased risk of leukemia; assoc. with annular pancreas

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4
Q

Trisomy 18 (Edwards syndrome)

A

strawberry skull, congenital heart disease, choroid plexus cysts, cleft lip/palate, omphalocele, CDH, horseshoe kidney, hydronephrosis, clenched hands, rocker bottom feet, single umbilical artery

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5
Q

Trisomy 13 (Patau syndrome)

A

holoprosencephaly, cleft lip/palate, congenital heart disease, polycystic kidneys, bladder exstrophy, polydactyly, rocker bottom feet

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6
Q

NF1 (von Recklinghausen disease)

A

sporadic and AD, chromosome 17; cafe au lait spots, neurofibromas, optic gliomas, FASI, renal artery stenosis, sphenoid wing dysplasia, Lisch nodules, dural ectasia; increased risk of pheochromocytomas, MPNSTs, Wilms, rhabdomyosarcoma, AMLs, gliomas, carcinoid, leiomyosarcoma (and some others), non-lymphocytic leukemia

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7
Q

NF2

A

chromosome 22; multiple intracranial schwannomas, meningiomas, and enchondromas (MISME)

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8
Q

Gaucher disease

A

AR; deficiency of glucocerebrosidase; H-shaped vertebral bodies, Erlenmeyer flask deformity, osteonecrosis (esp. femoral heads), splenomegaly +/- nodules

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9
Q

Beckwith-Wiedemann syndrome

A

sporadic, 15% AD, chromosome 11; hemihypertrophy, omphalocele, macroglossia, cardiac anomalies, organomegaly, neonatal hypoglycemia; increased risk of Wilms, rhabdomyosarcoma, neuroblastoma, pancreatoblastoma, hepatoblastoma, nephroblastomatosis; assoc. with hypospadia, cryptorchidism, nephrolithiasis, polyhydramnios

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10
Q

Birt-Hogg-Dube syndrome

A

AD; skin lesions, cystic lung disease, multiple oncocytomas and RCCs (chromophobe)

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11
Q

Behcet disease

A

oral and genital ulcers, uveitis, arthralgias, pulmonary artery aneurysms

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12
Q

Ollier disease

A

multiple enchondromas

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13
Q

Maffucci syndrome

A

multiple enchondromas, venous malformation/hemangiomas

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14
Q

Mazabraud syndrome

A

polyostotic fibrous dysplasia, multiple soft tissue myxomas

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15
Q

McCune-Albright syndrome

A

polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty

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16
Q

Sturge-Weber syndrome

A

port wine stain (V1 distribution), subcortical calcification, parenchymal volume loss; seizures, developmental delay, +/- hemiplegia/hemiparesis; assoc. with aortic coarctation, paragangliomas

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17
Q

Familial adenomatous polyposis (FAP)

A

AD, chromosome 5, ⅓ cases are sporadic; increased risk of colorectal cancer, hepatoblastoma (400x), desmoid tumors, osteomas

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18
Q

Gardner syndrome

A

FAP + desmoid tumors, osteomas, papillary thyroid cancer, epidermoid cysts

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19
Q

Turcot syndrome

A

FAP + gliomas, medulloblastomas

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20
Q

Lynch syndrome (HNPCC)

A

AD, DNA mismatch repair; adenomatous colon polyps; increased risk of endometrial, gastric, small bowel, liver, and biliary malignancy

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21
Q

Peutz-Jeghers syndrome

A

AD; GI hamartomas (small bowel especially), perioral mucocutaneous pigmented spots; increased risk of gynecologic, gastric, duodenal, and colonic malignancy

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22
Q

Cowden syndrome

A

AD; GI hamartomas, skin/mucous membrane hamartomas; increased risk of breast, thyroid (follicular), Lhermitte-Duclos, skin, oral, and uterine malignancy

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23
Q

Cronkhite-Canada syndrome

A

non-inherited; GI hamartomas, abnormal skin pigmentation, alopecia, onychodystrophy

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24
Q

MEN 1

A

parathyroid hyperplasia, pituitary adenoma, pancreatic islet cell tumors

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25
Q

MEN 2a

A

medullary thyroid cancer, pheochromocytoma, parathyroid hyperplasia

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26
Q

MEN 2b

A

medullary thyroid cancer, pheochromocytoma, neuromas (mucosal or ganglioneuromas), marfanoid habitus

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27
Q

Carney complex

A

a.k.a. LAMB or NAME syndrome; AD, considered MEN syndrome; cardiac myxomas, skin pigmentation (blue nevi); assoc. with Sertoli cell tumors (testes)

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28
Q

Gorham disease

A

a.k.a. vanishing bone disease; any age (young adults most often); osteolysis (humerus, shoulder girdle, pelvis, skull, mandible), splenic cysts

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29
Q

Jaffe-Campanacci syndrome

A

multiple NOFs, cafe au lait spots, intellectual disability

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30
Q

Metachondromatosis

A

AD; enchondromatosis and osteochondromatosis

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31
Q

POEMS syndrome

A

plasma cell dyscrasia; Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes (hyperpigmentation, thickening)

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32
Q

VACTERL

A

Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal, and Limb anomalies

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33
Q

Williams syndrome

A

supravalvular aortic/pulmonic stenosis, short stature, craniofacial dysmorphism; mental retardation, renal insufficiency, hypercalcemia (medullary nephrocalcinosis)

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34
Q

Turner syndrome

A

45X; cystic hygroma, bicuspid aortic valve, aortic coarctation, horseshoe kidney, streak ovaries, short 4th metacarpal

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35
Q

Marfan syndrome

A

lens problems, tall, pectus deformity, scoliosis, long fingers, aortic root dilation (cystic medial necrosis), mitral/aortic regurgitation, berry aneurysms, aortic dissection/aneurysm, pulmonary artery dilation

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36
Q

Ehlers-Danlos syndrome

A

stretchy skin, hypermobile joints, hemarthroses, aortic dissection/aneurysm

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37
Q

Loeys-Dietz syndrome

A

tortuous arteries and aneurysms (prone to aortic rupture), hypertelorism (widely-spaced eyes), bifid uvula or cleft palate; similar to Marfan’s

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38
Q

Noonan syndrome

A

pulmonic stenosis, hypertrophic cardiomyopathy, cystic hygromas

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39
Q

Alagille syndrome

A

paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, aortic coarctation

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40
Q

Holt-Oram syndrome

A

thumb/radial ray anomalies, VSD/ASD, aortic coarctation

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41
Q

DiGeorge syndrome

A

CATCH-22; TOF, truncus arteriosis, 3rd/4th pharyngeal pouch malformations (hypoparathyroidism, hypocalcemia), cleft lip/palate, decreased immunity (hypoplastic thymus)

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42
Q

Hughes-Stovin syndrome

A

recurrent thrombophlebitis, pulmonary artery aneurysms; similar to Behcet disease (but no genital involvement)

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43
Q

Heyde syndrome

A

aortic valve stenosis, GI bleeding (angiodysplasias?)

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44
Q

Klippel-Trenaunay-Weber syndrome

A

port-wine nevi (cutaneous hemangiomas), extremity hypertrophy, capillary and/or venous malformations, varicose veins

45
Q

Cogan syndrome

A

vertigo/tinnitus, inflammatory eye disease, aortitis

46
Q

Bland-White-Garland syndrome

A

a.k.a. ALCAPA

47
Q

Blue toe syndrome

A

acute thromboembolism in the toes

48
Q

PHACES syndrome

A

Posterior fossa (Dandy-Walker), Hemangiomas (e.g. subglottic), Arterial anomalies, Coarctation/cardiac defects, Eye abnormalities, Sternal cleft or supraumbilical raphe

49
Q

CHARGE syndrome

A

Coloboma, Heart defects, Atresia of choanae, Retardation of development, Genitourinary anomalies, Ear anomalies

50
Q

Cystic fibrosis

A

upper lobe bronchiectasis, recurrent pneumonia, pancreatic insufficiency => fatty replacement, DIOS, meconium ileus

51
Q

Shwachman-Diamond syndrome

A

pancreatic insufficiency => fatty replacement, diarrhea, eczema, metaphyseal flaring

52
Q

Kasabach-Merritt syndrome

A

vascular neoplasms (hemangioendotheliomas or hemangiomas) => consumptive coagulopathy, hemolytic anemia, thrombocytopenia

53
Q

Fanconi anemia

A

thumb/radial ray anomalies, marrow failure; assoc. with horseshoe kidney

54
Q

Prune belly syndrome

A

a.k.a. Eagle Barrett syndrome; abdominal wall underdevelopment (pear shape), gross ureteric dilation +/- hydronephrosis and posterior urethral dilation, bilateral cryptorchidism

55
Q

Sotos syndrome

A

macrocephaly, craniofacial dysmorphism; increased birth weight, mental retardation; ?increased risk of Wilms

56
Q

Denys-Drash syndrome

A

Wilms, pseudohermaphroditism, progressive glomerulonephritis

57
Q

WAGR syndrome

A

Wilms tumor, Aniridia, Genitourinary anomalies, Retardation (mental)

58
Q

Li Fraumeni syndrome

A

p53 mutation; increased risk of osteosarcoma, rhabdomyosarcoma, breast cancer, adrenal cortical carcinoma, medulloblastoma, gliomas, choroid plexus carcinoma

59
Q

Hand-Schuller-Christian disease

A

subtype of LCH; pituitary hypophysitis (=> diabetes insipidus), exophthalmos, lytic bone lesions (skull often)

60
Q

SAPHO syndrome

A

Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis; assoc. with CRMO

61
Q

Kartagener syndrome

A

subset of primary ciliary dyskinesia; situs inversus, bronchiectasis, nasal polyposis and/or chronic sinusitis, infertility in males and subfertility in females

62
Q

Meckel-Gruber syndrome

A

AR; encephalocele/holoprosencephaly, renal cystic dysplasia (analogous to ARPKD), polydactyly

63
Q

Plummer-Vinson syndrome

A

iron-deficiency anemia, dysphagia, weight loss, esophageal web; increased risk for hypopharyngeal SCC

64
Q

Ogilvie syndrome

A

a.k.a. colonic ileus or colonic pseudo-obstruction

65
Q

Blue rubber bleb nevus syndrome

A

a.k.a. Bean syndrome; skin and bowel venous anomalies; risk of lower GI bleeding

66
Q

McKittrick-Wheelock syndrome

A

villous adenoma => mucous diarrhea => severe fluid/electrolyte depletion; may lead to acute renal failure

67
Q

Trousseau syndrome

A

cancer-associated migratory thrombophlebitis (often undiagnosed cancer)

68
Q

Ataxia-telangiectasia

A

a.k.a. Louis Bar syndrome; vermian hypoplasia with compensatory enlargement of 4th ventricle; increased incidence of malignancy (including radiation-induced)

69
Q

BRCA 1 (hereditary breast and ovarian cancer syndrome)

A

increased risk of breast cancer, ovarian, prostate, pancreatic, colorectal; bold = higher risk than BRCA 2

70
Q

BRCA 2 (hereditary breast and ovarian cancer syndrome)

A

increased risk of breast cancer (especially male), ovarian, prostate, pancreatic; bold = higher risk than BRCA 1

71
Q

Lipase hypersecretion syndrome

A

occurs in the setting of acinar cell carcinoma; subcutaneous fat necrosis, eosinophilia, bone infarcts => polyarthralgias

72
Q

Felty syndrome

A

rheumatoid arthritis, splenomegaly, neutropenia

73
Q

Mayer-Rokitansky-Kuster-Hauser syndrome

A

Mullerian duct anomaly; upper vaginal atresia, absent or rudimentary uterus; may have assoc. renal anomalies

74
Q

Alport syndrome

A

X-linked recessive, glomerular basement membrane defect; hematuria, sensorineural hearing loss, ocular abnormalities, multiple leiomyomas (uterus, esophagus, trachea), cortical nephrocalcinosis

75
Q

Caroli syndrome

A

Caroli disease + hepatic fibrosis; assoc. with medullary sponge kidney, ADPKD, ARPKD

76
Q

Meigs syndrome

A

ascites, pleural effusion, benign ovarian tumor (fibroma&raquo_space;> fibrothecoma, thecoma, granulosa cell tumor, Brenner tumor)

77
Q

Zinner syndrome

A

Wolffian duct anomaly; unilateral renal agenesis, ipsilateral ejaculatory duct obstruction, ipsilateral seminal vesicle cyst

78
Q

Conn syndrome

A

increased aldosterone => hypertension, hypokalemia; most commonly due to a functional adenoma

79
Q

Cushing syndrome

A

over-production of ACTH due to paraneoplastic syndrome, adrenal adenoma, or primary adrenal hyperplasia

80
Q

Cushing disease

A

ACTH-secreting pituitary adenoma

81
Q

Waterhouse-Friderichsen syndrome

A

post-hemorrhagic adrenal failure in the setting of N. meningitidis

82
Q

CHAOS

A

Congenital High Airway Obstruction Syndrome, with or without TE fistula

83
Q

Gorlin-Goltz syndrome

A

a.k.a. basal cell nevus syndrome; multiple odontogenic keratocysts, dural calcifications; increased risk of medulloblastoma, cardiac fibroma, ovarian fibroma (calcified)

84
Q

Kallmann syndrome

A

cleft lip, renal agenesis, enlarged paranasal sinuses, septo-optic dysplasia, small anterior pituitary; mental retardation, hypogonadism, anosmia; assoc. with arhinencephaly

85
Q

Idiopathic hypogonadotropic hypogonadism

A

Kallmann syndrome without anosmia

86
Q

COACH syndrome

A

Cerebellar vermis defect (Joubert syndrome), Oligophrenia, Ataxia, Coloboma, Hepatic fibrosis

87
Q

Apert syndrome

A

classic triad of brachycephaly (craniosynostosis), facial hypoplasia, syndactyly; hypertelorism

88
Q

Crouzon syndrome

A

craniosynostosis => abnormal skull shape (can be cloverleaf), exophthalmos, midface hypoplasia

89
Q

Caplan syndrome

A

rheumatoid arthritis + upper lobe pneumoconiosis changes (fibrosis)

90
Q

Shone syndrome

A

supravalvular mitral membrane, parachute mitral valve, subaortic stenosis, coarctation

91
Q

Buschke-Ollendorff syndrome

A

osteopoikilosis + yellow skin lesions

92
Q

Aicardi syndrome

A

X-linked; corpus callosum dysgenesis, intracranial cysts, infantile spasms, chorioretinal lacunae, Dandy-Walker spectrum anomalies

93
Q

CREST syndrome

A

variant of scleroderma; Calcinosis, Raynaud’s, Esophageal dysmotility, Sclerodactyly, Telangiectasia

94
Q

Fahr disease

A

basal ganglia calcification and atrophy

95
Q

Klinefelter syndrome

A

XXY; tall stature, androgen deficiency, sparse body hair; assoc. with choroid plexus cysts, omphalocele; increased risk of male breast cancer and extragonadal NSGCT

96
Q

Letterer-Siwe disease

A

pulmonary LCH, hepatosplenomegaly, rash, bone marrow failure; fulminant, poor prognosis

97
Q

Nail-patella syndrome

A

a.k.a. Fong disease; absent or hypoplastic nails and patella; bilateral iliac horns (“Fong’s prongs”), hypoplastic radial head

98
Q

Yellow nails syndrome

A

dystrophic discolored nails, peripheral lymphedema, pleural effusions, bronchiectasis/recurrent pneumonias

99
Q

Carney triad

A

Chondroma (pulmonary), Extra-adrenal pheochromocytoma, GIST

100
Q

Gradenigo triad

A

petrous apicitis, lateral rectus palsy (CN 6), facial pain (CN V3)

101
Q

Rigler triad

A

pneumobilia, small bowel obstruction, gallstone ileus

102
Q

Charcot triad

A

fever, abdominal pain, jaundice

103
Q

O’donoghue unhappy triad

A

ACL tear, medial meniscus tear, MCL tear/sprain

104
Q

Currarino triad

A

anorectal malformation, sacrococcygeal osseous defect, presacral mass (meningocele, teratoma, hamartoma)

105
Q

Whipple triad

A

2/2 insulinoma; hypoglycemia, symptoms of hypoglycemia, alleviation of symptoms after administration of glucose

106
Q

Pentalogy of Cantrell

A

ectopia cordis, omphalocele, diaphragmatic defect, pericardial defect, disruption of sternum

107
Q

Ramsay Hunt syndrome

A

due to VZV infection; facial paralysis (CN 7), sensorineural hearing loss (CN 8), vesicular rash of external ear

108
Q

Samter’s triad

A

nasal polyposis, aspirin intolerance, asthma

109
Q

Pendred syndrome

A

enlarged vestibular aqueduct, absence of bony modeolus, +/- Mondini malformation; assoc. with thyroid goiter

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