Term
| Abdominal pain, ascites, hepatomegaly |
|
Definition
| Budd-Chiari syndrome (poshepatic venous thrombosis) |
|
|
Term
|
Definition
| familial hypercholesterolemia |
|
|
Term
| adrenal hemorrhage, hypotension, DIC |
|
Definition
| Waterhouse-Friderichsen syndrome (meningococcemia) |
|
|
Term
| arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints |
|
Definition
|
|
Term
| Athelete with polycythemia |
|
Definition
|
|
Term
| back pain, fever, night sweats, weight loss |
|
Definition
| Pott's disease (vertebral tuberculosis) |
|
|
Term
| Bilateral hilar adenopathy, uveitis |
|
Definition
| sarcoidosis (noncaseating ganulomas) |
|
|
Term
|
Definition
| osteogenesis imperfecta (collagen deficit) |
|
|
Term
|
Definition
| Burton's line (lead poisoning) |
|
|
Term
| bone pain, bone enlargement, arthritis |
|
Definition
| Paget's Disease of bone (inc. osteoblastic and osteoclastic activity) |
|
|
Term
| bounding pulses, diastolic heart murmur, head bobbing |
|
Definition
|
|
Term
| cafe-au-lait spots, Lisch nodules (iris hamartoma) |
|
Definition
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas) |
|
|
Term
| Cafe-au lait spots, polyostotic fibrous dysplasisa, precocious puberty |
|
Definition
| McCune-Albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
|
Definition
| Muscular dystrophy (most commonly Duchenne's) |
|
|
Term
| "cherry red spot" on macula |
|
Definition
| Tay Sachs (ganglioside accumulation ) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
|
|
Term
| chest pain, pericardial effusion/friction rub, persistent fever following MI |
|
Definition
| Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode) |
|
|
Term
| child uses arms to stand up from squat |
|
Definition
| Gowers' sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene) |
|
|
Term
| child with fever develops red rash on face that spread to body |
|
Definition
| "slapped cheeks" (erythema infectiosum/fifth disease; parvovirus B19) |
|
|
Term
| Chorea, dementia, caudate degeneration |
|
Definition
| Huntington's Disease (autosomal-dominant CAG repeat expansion) |
|
|
Term
| Chronic exercise intolerance w/ myalgia, fatigue, painful cramps |
|
Definition
| McArdle's disease (muscle phosphorylase deficiency) |
|
|
Term
|
Definition
|
|
Term
| conjugate lateral gaze palsy, horizontal diplopia |
|
Definition
| internuclear ophtalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]) |
|
|
Term
| continuous "machinery" heart murmur |
|
Definition
| PDA (close with indomethacin; open with misoprostol) |
|
|
Term
| cutaneous /dermal edema due to connective tissue deposition |
|
Definition
| myxedema (hypothyroidism, Graves' disease) |
|
|
Term
| Dark purple skin/mouth nodules |
|
Definition
| Kaposi's sarcome (usually AIDS patients [gay men]: associated with HHV-8) |
|
|
Term
| Deep labored breathing/hyperventilation |
|
Definition
| Kussmaul breathing (diabetic ketoacidosis) |
|
|
Term
| Dermatitis, dementia, diarrhea |
|
Definition
| Pellagra (niacin [vitamin B3] deficiency) |
|
|
Term
| dilated cardiomyopathy, edema, polyneuropathy |
|
Definition
| Wet beriberi (thiamine [vitamin B1] deficiency) |
|
|
Term
| dog or cat bite resulting in infection |
|
Definition
| Pasteurella multocida (cellulitis at inoculation site) |
|
|
Term
| Dry eyes, dry mouth, arthritis |
|
Definition
| Sjogren's syndrome (autoimmune destruction of exocrine glands) |
|
|
Term
| dysphagia (esophageal webs), glossitis, iron def. anemia |
|
Definition
| Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
|
|
Term
| elastic skin, hypermobility of joints |
|
Definition
| Ehlers'Danos syndrome (collagen defect, usually type III) |
|
|
Term
| enlarged, hard left supraclavicular node |
|
Definition
| Virchow's node (abdominal metastasis) |
|
|
Term
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
|
Definition
| Sezary syndrome (cutatneous T cell lymphoma) or mycosis fungoides |
|
|
Term
| facial muscle spasm upon tapping |
|
Definition
| Chvostek's sign (hypocalcemia) |
|
|
Term
| Fat, female, forty, and fertile |
|
Definition
| acute cholecystitis (bile duct blockage) |
|
|
Term
| fever, chills, headache, myalgia following antibiotic treatment for syphilis |
|
Definition
| Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) |
|
|
Term
| Fever, cough, conjunctivitis, coryza, diffuse rash |
|
Definition
|
|
Term
| Fever, night sweats, weight loss |
|
Definition
|
|
Term
| Fibrous plaques in soft tissue of penis |
|
Definition
| Peyronies disease (connective tissue disorder) |
|
|
Term
| gout, mental retardation, self-mutilating behavior in a boy |
|
Definition
| Lesch-nyhan syndrome (HGPRT deficiency, X -linked recessive) |
|
|
Term
| Green-yellow rings around peripheral cornea |
|
Definition
| Kayser-Fleischer rings (copper accumulation from Wilson's Disease) |
|
|
Term
| Hamartomatous GI Polyps, hyperpigmentation of mouth/feet/hands |
|
Definition
| Peutz Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; inc. cancer risk) |
|
|
Term
| Hepatosplenomegaly, osteoporosis, neurologic symptoms |
|
Definition
| Gaucher's Disease (glucocerebrosidase deficiency) |
|
|
Term
| Hereditary nephritis, sensorineural hearing loss, cataracts |
|
Definition
| Alport's Syndrome (type IV collagen mutation) |
|
|
Term
| Hypercoagulability (leading to migrating DVTs and vasculitis) |
|
Definition
| Trousseaus's sign (adenocarcinoma of pancreas or lung) |
|
|
Term
| Hyperphagia, hypersexuality, hyperorality, hyperdocility |
|
Definition
| Kluver-Bucy syndrome (bilateral amygdala lesion) |
|
|
Term
| Hypertension, hypokalemia, metabolic acidosis |
|
Definition
| Conn's Syndrome (primary hyperaldosteronism) |
|
|
Term
| Hypoxemia, polycythemia, hypercapnia |
|
Definition
| "Blue Bloater" (chronic bronchitis: hyperplasia of mucous cells) |
|
|
Term
| indurated, ulcerated genital lesion |
|
Definition
nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi) |
|
|
Term
| input with failure to thrive, hepatosplenomegaly, neurodegeneration |
|
Definition
| Niemann-Pick Disease (genetic sphingomyelinase deficiency) |
|
|
Term
| infant w/ hypoglycemia, failure to thrive, and hepatomegaly |
|
Definition
| Cori's disease (debranching enzyme deficiency) |
|
|
Term
| infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect |
|
Definition
| Edward's syndrome (trisomy 18) |
|
|
Term
| Jaundice, RUQ pain, fever |
|
Definition
| Charcot's triad 2 (ascending cholangitis) |
|
|
Term
| keratin pearls on a skin biopsy |
|
Definition
|
|
Term
| large rash with bull's eye appearance |
|
Definition
| erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia) |
|
|
Term
| Lucid interval after traumatic brain injury |
|
Definition
| Epidural hematoma (middle meningeal artery rupture) |
|
|
Term
| male child, recurrent infections, no mature B cells |
|
Definition
| Bruton's Disease (X-linked agammaglobulinemia) |
|
|
Term
| mucosal bleeding and prolonged bleeding time |
|
Definition
| Glanzmann's thromabsthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) |
|
|
Term
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth |
|
Definition
| Gardner's syndrome (subtype of FAP) |
|
|
Term
| necrotizing vasculitis (lungs) and necrotiing glomerulonephritis |
|
Definition
| Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies) |
|
|
Term
| Neonate with arm paralysis following difficult birth |
|
Definition
| Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip") |
|
|
Term
| No lactation postpartum, absent menstruation, cold intolerance |
|
Definition
| Sheehan's syndrome (pituitary infarction) |
|
|
Term
| nystagums, intention tremor, scanning speech, bilateral internuclear opthalmoplegia |
|
Definition
|
|
Term
| oscillating slow/fast breathing |
|
Definition
| Cheyne-Stokes respirations (central apnea in CHF or inc. intracranial pressure) |
|
|
Term
| painful blue fingers/toes, hemolytic anemia |
|
Definition
| Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono) |
|
|
Term
| Painful, pale, cold fingers/toes |
|
Definition
| Raynaud's syndrome (vasospasm in extremities) |
|
|
Term
| painful, raised red lesions on palms and soles |
|
Definition
| Osler's node (infective endocarditis) |
|
|
Term
| Painless erythematous lesions on palms and soles |
|
Definition
| Janeway lesions (infective endocardidits) |
|
|
Term
|
Definition
| cancer of the pancreatic head obstructing bile duct |
|
|
Term
| palpable purpura, joint pain, abdominal pain (child) |
|
Definition
| Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
|
|
Term
| pancreatic, pituitary, parathyroid tumors |
|
Definition
| Wermer's syndrome (MEN 1) |
|
|
Term
| pink complexion, dyspnea, hyperventilation |
|
Definition
| pink puffer (emphysema: centroacinar [smoking], panacinar [alpha1 antitrypsin deficiency) |
|
|
Term
| polyuria, acidosis, growth failure, electrolyte imbalances |
|
Definition
| Fanconi's syndrome (proximal tubular reabsorption defect) |
|
|
Term
| positive anterior "drawer sign" |
|
Definition
| anterior cruciate ligament (ACL) injury |
|
|
Term
| ptosis, miosis, anhidrosis |
|
Definition
| Horner's syndrome (sympathetic chain lesion) |
|
|
Term
| pupil accomodates but doesnt react |
|
Definition
| Argyll Robertson pupil (neurosyphillis) |
|
|
Term
| Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection) |
|
Definition
| Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
|
|
Term
|
Definition
| secondary syphillis, Rocky mountain spotted fever |
|
|
Term
| Red "currant jelly" sputum in alcoholic or diabetic patients |
|
Definition
|
|
Term
| red, itchy, swollen rash of nipple/areola |
|
Definition
| Paget's disease of the breast (represents underlying neoplasm) |
|
|
Term
| recurrent colds, unusual eczema, high serum IgE |
|
Definition
| Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality) |
|
|
Term
| red urine in the morning, fragile RBCs |
|
Definition
| Paroxysmal nocturnal hemolobinuria |
|
|
Term
| Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma |
|
Definition
| von Hippel-Lindau disease (dominant tumor suppressor gene mutation) |
|
|
Term
| Resting tremor, rigidity, akinesia, postural instability |
|
Definition
| Parkinson's disease (nigrostriatal dopamine deficiency) |
|
|
Term
| restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance |
|
Definition
| Pompe's disease (lysosomal glucosidase deficiency) |
|
|
Term
| Retinal hemorrhages with pale centers |
|
Definition
| Roth's spots (bacterial endocarditis) |
|
|
Term
| Severe jaundice in neonate |
|
Definition
| Crigler-Najjar synomre (congenital unconjugated hyperbilirubinemia) |
|
|
Term
| Severe RLQ pain with rebound tenderness |
|
Definition
| McBurney's sign (appendicitis) |
|
|
Term
| Short stature, inc. incidence of tumors/leukemia, aplastic anemia |
|
Definition
| Fanconi's anemia (genetically inherited; often progresses to AML) |
|
|
Term
|
Definition
| Simian crease (down syndrome) |
|
|
Term
| Situs inversus, chronic sinusitis, bronchiectasis |
|
Definition
| Kartageners syndrome (dynein defect affecting cilia) |
|
|
Term
|
Definition
| Addison's Disease (primary adrenocortical insufficiency of autoimmune or infectious etiology) |
|
|
Term
| slow, progressive muscle weakness in boys |
|
Definition
| Becker's muscular dystrophy (X-lined, defective dystrophin; less severe than Duchenn's) |
|
|
Term
| small, irregular red spots on bucccal/lingual mucosa with blue-white centers |
|
Definition
|
|
Term
| smooth, flat, moist white lesions on genitals |
|
Definition
| condylomata lata (secondary syphillis) |
|
|
Term
| splinter hemorrhages in fingernails |
|
Definition
|
|
Term
|
Definition
| Scarlet fever, Kawasaki disease, toxic shock syndrome |
|
|
Term
| streak ovaries, congenital heart disease, horseshoe kidney |
|
Definition
| turner syndrome (XO, short stature, webbed neck, lymphedema) |
|
|
Term
| sudden swollen/painful big toe joint, tophi |
|
Definition
| gout/podagra (hyperuricemia) |
|
|
Term
| swollen gums, mucous bleeding, poor wound healing, spots on skin |
|
Definition
| Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis) |
|
|
Term
| Swollen, hard, painful finger joints |
|
Definition
| osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes]) |
|
|
Term
| Systolic ejection murmur (crescendo-decrescendo) |
|
Definition
|
|
Term
| Thyroid and parathyroid tumors, pheocromocytoma |
|
Definition
| Sipple's syndrome (MEN 2A) |
|
|
Term
| Toe extension/fanning upon plantar scrape |
|
Definition
| Babinski sign (UMN lesion) |
|
|
Term
| Urethritis, conjunctivitis, arthritis in a male |
|
Definition
| Reiter's syndrome (reactive arthritis associated with HLA-B27) |
|
|
Term
| Vascular birthmark (port-wine stain) |
|
Definition
| Hemangioma (benign, but associated with Sturge-Weber syndrome) |
|
|
Term
| Vasculitis from exposure to endotoxin causing glomerular thrombosis |
|
Definition
| Shwartzman reaction (following second exposure to endotoxin) |
|
|
Term
| Vomiting blood following esophagogastric lacerations |
|
Definition
| Mallory-Weiss syndrome (alcoholic and bulimic patients) |
|
|
Term
| "waxy" casts with very low urine flow |
|
Definition
| chronic end stage renal disease |
|
|
Term
|
Definition
|
|
Term
| weight loss, diarrhea, arthrits, fever, adenopathy |
|
Definition
| Whipple's disease (Tropheryma whippelii) |
|
|
Term
| "worst headache of my life" |
|
Definition
|
|
Term
| unilateral facial drooping involving forehead |
|
Definition
| Bell's palsy (LMN CN VII palsy) |
|
|
