SPECIAL - Syndromes Flashcards
Von Hippel-Lindau disease
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
Tuberous sclerosis
spontaneous and AD, chromosome 16; multiple AMLs, renal cysts, cardiac rhabdomyomas, cortical hamartomas (tubers), subependymal nodules, SEGAs, lymphangioleiomyomatosis; seizures, developmental delay
Down syndrome
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
Trisomy 18 (Edwards syndrome)
strawberry skull, congenital heart disease, choroid plexus cysts, cleft lip/palate, omphalocele, CDH, horseshoe kidney, hydronephrosis, clenched hands, rocker bottom feet, single umbilical artery
Trisomy 13 (Patau syndrome)
holoprosencephaly, cleft lip/palate, congenital heart disease, polycystic kidneys, bladder exstrophy, polydactyly, rocker bottom feet
NF1 (von Recklinghausen disease)
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
NF2
chromosome 22; multiple intracranial schwannomas, meningiomas, and enchondromas (MISME)
Gaucher disease
AR; deficiency of glucocerebrosidase; H-shaped vertebral bodies, Erlenmeyer flask deformity, osteonecrosis (esp. femoral heads), splenomegaly +/- nodules
Beckwith-Wiedemann syndrome
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
Birt-Hogg-Dube syndrome
AD; skin lesions, cystic lung disease, multiple oncocytomas and RCCs (chromophobe)
Behcet disease
oral and genital ulcers, uveitis, arthralgias, pulmonary artery aneurysms
Ollier disease
multiple enchondromas
Maffucci syndrome
multiple enchondromas, venous malformation/hemangiomas
Mazabraud syndrome
polyostotic fibrous dysplasia, multiple soft tissue myxomas
McCune-Albright syndrome
polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty
Sturge-Weber syndrome
port wine stain (V1 distribution), subcortical calcification, parenchymal volume loss; seizures, developmental delay, +/- hemiplegia/hemiparesis; assoc. with aortic coarctation, paragangliomas
Familial adenomatous polyposis (FAP)
AD, chromosome 5, ⅓ cases are sporadic; increased risk of colorectal cancer, hepatoblastoma (400x), desmoid tumors, osteomas
Gardner syndrome
FAP + desmoid tumors, osteomas, papillary thyroid cancer, epidermoid cysts
Turcot syndrome
FAP + gliomas, medulloblastomas
Lynch syndrome (HNPCC)
AD, DNA mismatch repair; adenomatous colon polyps; increased risk of endometrial, gastric, small bowel, liver, and biliary malignancy
Peutz-Jeghers syndrome
AD; GI hamartomas (small bowel especially), perioral mucocutaneous pigmented spots; increased risk of gynecologic, gastric, duodenal, and colonic malignancy
Cowden syndrome
AD; GI hamartomas, skin/mucous membrane hamartomas; increased risk of breast, thyroid (follicular), Lhermitte-Duclos, skin, oral, and uterine malignancy
Cronkhite-Canada syndrome
non-inherited; GI hamartomas, abnormal skin pigmentation, alopecia, onychodystrophy
MEN 1
parathyroid hyperplasia, pituitary adenoma, pancreatic islet cell tumors
MEN 2a
medullary thyroid cancer, pheochromocytoma, parathyroid hyperplasia
MEN 2b
medullary thyroid cancer, pheochromocytoma, neuromas (mucosal or ganglioneuromas), marfanoid habitus
Carney complex
a.k.a. LAMB or NAME syndrome; AD, considered MEN syndrome; cardiac myxomas, skin pigmentation (blue nevi); assoc. with Sertoli cell tumors (testes)
Gorham disease
a.k.a. vanishing bone disease; any age (young adults most often); osteolysis (humerus, shoulder girdle, pelvis, skull, mandible), splenic cysts
Jaffe-Campanacci syndrome
multiple NOFs, cafe au lait spots, intellectual disability
Metachondromatosis
AD; enchondromatosis and osteochondromatosis
POEMS syndrome
plasma cell dyscrasia; Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes (hyperpigmentation, thickening)
VACTERL
Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal, and Limb anomalies
Williams syndrome
supravalvular aortic/pulmonic stenosis, short stature, craniofacial dysmorphism; mental retardation, renal insufficiency, hypercalcemia (medullary nephrocalcinosis)
Turner syndrome
45X; cystic hygroma, bicuspid aortic valve, aortic coarctation, horseshoe kidney, streak ovaries, short 4th metacarpal
Marfan syndrome
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
Ehlers-Danlos syndrome
stretchy skin, hypermobile joints, hemarthroses, aortic dissection/aneurysm
Loeys-Dietz syndrome
tortuous arteries and aneurysms (prone to aortic rupture), hypertelorism (widely-spaced eyes), bifid uvula or cleft palate; similar to Marfan’s
Noonan syndrome
pulmonic stenosis, hypertrophic cardiomyopathy, cystic hygromas
Alagille syndrome
paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, aortic coarctation
Holt-Oram syndrome
thumb/radial ray anomalies, VSD/ASD, aortic coarctation
DiGeorge syndrome
CATCH-22; TOF, truncus arteriosis, 3rd/4th pharyngeal pouch malformations (hypoparathyroidism, hypocalcemia), cleft lip/palate, decreased immunity (hypoplastic thymus)
Hughes-Stovin syndrome
recurrent thrombophlebitis, pulmonary artery aneurysms; similar to Behcet disease (but no genital involvement)
Heyde syndrome
aortic valve stenosis, GI bleeding (angiodysplasias?)
Klippel-Trenaunay-Weber syndrome
port-wine nevi (cutaneous hemangiomas), extremity hypertrophy, capillary and/or venous malformations, varicose veins
Cogan syndrome
vertigo/tinnitus, inflammatory eye disease, aortitis
Bland-White-Garland syndrome
a.k.a. ALCAPA
Blue toe syndrome
acute thromboembolism in the toes
PHACES syndrome
Posterior fossa (Dandy-Walker), Hemangiomas (e.g. subglottic), Arterial anomalies, Coarctation/cardiac defects, Eye abnormalities, Sternal cleft or supraumbilical raphe
CHARGE syndrome
Coloboma, Heart defects, Atresia of choanae, Retardation of development, Genitourinary anomalies, Ear anomalies
Cystic fibrosis
upper lobe bronchiectasis, recurrent pneumonia, pancreatic insufficiency => fatty replacement, DIOS, meconium ileus
Shwachman-Diamond syndrome
pancreatic insufficiency => fatty replacement, diarrhea, eczema, metaphyseal flaring
Kasabach-Merritt syndrome
vascular neoplasms (hemangioendotheliomas or hemangiomas) => consumptive coagulopathy, hemolytic anemia, thrombocytopenia
Fanconi anemia
thumb/radial ray anomalies, marrow failure; assoc. with horseshoe kidney
Prune belly syndrome
a.k.a. Eagle Barrett syndrome; abdominal wall underdevelopment (pear shape), gross ureteric dilation +/- hydronephrosis and posterior urethral dilation, bilateral cryptorchidism
Sotos syndrome
macrocephaly, craniofacial dysmorphism; increased birth weight, mental retardation; ?increased risk of Wilms
Denys-Drash syndrome
Wilms, pseudohermaphroditism, progressive glomerulonephritis
WAGR syndrome
Wilms tumor, Aniridia, Genitourinary anomalies, Retardation (mental)
Li Fraumeni syndrome
p53 mutation; increased risk of osteosarcoma, rhabdomyosarcoma, breast cancer, adrenal cortical carcinoma, medulloblastoma, gliomas, choroid plexus carcinoma
Hand-Schuller-Christian disease
subtype of LCH; pituitary hypophysitis (=> diabetes insipidus), exophthalmos, lytic bone lesions (skull often)
SAPHO syndrome
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis; assoc. with CRMO
Kartagener syndrome
subset of primary ciliary dyskinesia; situs inversus, bronchiectasis, nasal polyposis and/or chronic sinusitis, infertility in males and subfertility in females
Meckel-Gruber syndrome
AR; encephalocele/holoprosencephaly, renal cystic dysplasia (analogous to ARPKD), polydactyly
Plummer-Vinson syndrome
iron-deficiency anemia, dysphagia, weight loss, esophageal web; increased risk for hypopharyngeal SCC
Ogilvie syndrome
a.k.a. colonic ileus or colonic pseudo-obstruction
Blue rubber bleb nevus syndrome
a.k.a. Bean syndrome; skin and bowel venous anomalies; risk of lower GI bleeding
McKittrick-Wheelock syndrome
villous adenoma => mucous diarrhea => severe fluid/electrolyte depletion; may lead to acute renal failure
Trousseau syndrome
cancer-associated migratory thrombophlebitis (often undiagnosed cancer)
Ataxia-telangiectasia
a.k.a. Louis Bar syndrome; vermian hypoplasia with compensatory enlargement of 4th ventricle; increased incidence of malignancy (including radiation-induced)
BRCA 1 (hereditary breast and ovarian cancer syndrome)
increased risk of breast cancer, ovarian, prostate, pancreatic, colorectal; bold = higher risk than BRCA 2
BRCA 2 (hereditary breast and ovarian cancer syndrome)
increased risk of breast cancer (especially male), ovarian, prostate, pancreatic; bold = higher risk than BRCA 1
Lipase hypersecretion syndrome
occurs in the setting of acinar cell carcinoma; subcutaneous fat necrosis, eosinophilia, bone infarcts => polyarthralgias
Felty syndrome
rheumatoid arthritis, splenomegaly, neutropenia
Mayer-Rokitansky-Kuster-Hauser syndrome
Mullerian duct anomaly; upper vaginal atresia, absent or rudimentary uterus; may have assoc. renal anomalies
Alport syndrome
X-linked recessive, glomerular basement membrane defect; hematuria, sensorineural hearing loss, ocular abnormalities, multiple leiomyomas (uterus, esophagus, trachea), cortical nephrocalcinosis
Caroli syndrome
Caroli disease + hepatic fibrosis; assoc. with medullary sponge kidney, ADPKD, ARPKD
Meigs syndrome
ascites, pleural effusion, benign ovarian tumor (fibroma»_space;> fibrothecoma, thecoma, granulosa cell tumor, Brenner tumor)
Zinner syndrome
Wolffian duct anomaly; unilateral renal agenesis, ipsilateral ejaculatory duct obstruction, ipsilateral seminal vesicle cyst
Conn syndrome
increased aldosterone => hypertension, hypokalemia; most commonly due to a functional adenoma
Cushing syndrome
over-production of ACTH due to paraneoplastic syndrome, adrenal adenoma, or primary adrenal hyperplasia
Cushing disease
ACTH-secreting pituitary adenoma
Waterhouse-Friderichsen syndrome
post-hemorrhagic adrenal failure in the setting of N. meningitidis
CHAOS
Congenital High Airway Obstruction Syndrome, with or without TE fistula
Gorlin-Goltz syndrome
a.k.a. basal cell nevus syndrome; multiple odontogenic keratocysts, dural calcifications; increased risk of medulloblastoma, cardiac fibroma, ovarian fibroma (calcified)
Kallmann syndrome
cleft lip, renal agenesis, enlarged paranasal sinuses, septo-optic dysplasia, small anterior pituitary; mental retardation, hypogonadism, anosmia; assoc. with arhinencephaly
Idiopathic hypogonadotropic hypogonadism
Kallmann syndrome without anosmia
COACH syndrome
Cerebellar vermis defect (Joubert syndrome), Oligophrenia, Ataxia, Coloboma, Hepatic fibrosis
Apert syndrome
classic triad of brachycephaly (craniosynostosis), facial hypoplasia, syndactyly; hypertelorism
Crouzon syndrome
craniosynostosis => abnormal skull shape (can be cloverleaf), exophthalmos, midface hypoplasia
Caplan syndrome
rheumatoid arthritis + upper lobe pneumoconiosis changes (fibrosis)
Shone syndrome
supravalvular mitral membrane, parachute mitral valve, subaortic stenosis, coarctation
Buschke-Ollendorff syndrome
osteopoikilosis + yellow skin lesions
Aicardi syndrome
X-linked; corpus callosum dysgenesis, intracranial cysts, infantile spasms, chorioretinal lacunae, Dandy-Walker spectrum anomalies
CREST syndrome
variant of scleroderma; Calcinosis, Raynaud’s, Esophageal dysmotility, Sclerodactyly, Telangiectasia
Fahr disease
basal ganglia calcification and atrophy
Klinefelter syndrome
XXY; tall stature, androgen deficiency, sparse body hair; assoc. with choroid plexus cysts, omphalocele; increased risk of male breast cancer and extragonadal NSGCT
Letterer-Siwe disease
pulmonary LCH, hepatosplenomegaly, rash, bone marrow failure; fulminant, poor prognosis
Nail-patella syndrome
a.k.a. Fong disease; absent or hypoplastic nails and patella; bilateral iliac horns (“Fong’s prongs”), hypoplastic radial head
Yellow nails syndrome
dystrophic discolored nails, peripheral lymphedema, pleural effusions, bronchiectasis/recurrent pneumonias
Carney triad
Chondroma (pulmonary), Extra-adrenal pheochromocytoma, GIST
Gradenigo triad
petrous apicitis, lateral rectus palsy (CN 6), facial pain (CN V3)
Rigler triad
pneumobilia, small bowel obstruction, gallstone ileus
Charcot triad
fever, abdominal pain, jaundice
O’donoghue unhappy triad
ACL tear, medial meniscus tear, MCL tear/sprain
Currarino triad
anorectal malformation, sacrococcygeal osseous defect, presacral mass (meningocele, teratoma, hamartoma)
Whipple triad
2/2 insulinoma; hypoglycemia, symptoms of hypoglycemia, alleviation of symptoms after administration of glucose
Pentalogy of Cantrell
ectopia cordis, omphalocele, diaphragmatic defect, pericardial defect, disruption of sternum
Ramsay Hunt syndrome
due to VZV infection; facial paralysis (CN 7), sensorineural hearing loss (CN 8), vesicular rash of external ear
Samter’s triad
nasal polyposis, aspirin intolerance, asthma
Pendred syndrome
enlarged vestibular aqueduct, absence of bony modeolus, +/- Mondini malformation; assoc. with thyroid goiter
