Term
| abdominal pain, ascites, hepatomegaly |
|
Definition
| Budd-Chiari syndrome (posthepatic venous thrombosis) |
|
|
Term
|
Definition
| familial hypercholesterolemia (decreased LDL receptor signaling) |
|
|
Term
| adrenal hemorrhage, hypotension, DIC |
|
Definition
| Waterhouse-Friderichsen syndrome (meingococcemia) |
|
|
Term
| arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints |
|
Definition
| Marfan's syndrome (fibrillin defect) |
|
|
Term
| athlete with polycythemia |
|
Definition
|
|
Term
| back pain, fever, night seats, weight loss |
|
Definition
| Pott's disease (vertebral tuberculosis) |
|
|
Term
| bilateral hilar adenopathy, uveitis |
|
Definition
| sarcoidosis (noncaseating granulomas) |
|
|
Term
|
Definition
| osteogenesis imperfecta (collagen defect) |
|
|
Term
|
Definition
| Burton's line (lead poisoning) |
|
|
Term
| bone pain, bone enlargement, arthritis |
|
Definition
| Paget's disease of bone (increased osteoblastic and osteoclastic activity) |
|
|
Term
| bounding pulses, diastolic heart murmur, head bobbing |
|
Definition
|
|
Term
| "butterfly" facial rash and Raynaud's phenomenon in a young female |
|
Definition
| systemic lupus erythematosus |
|
|
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 spoots, polyostotic fibrous dysplasia, precocious puberty |
|
Definition
| McCune-Albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
|
Definition
| muscular dystophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene |
|
|
Term
| "cherry-red spot" on macula |
|
Definition
| Tay-Saches (ganglioside accumulation) or Niemann-Pick (spingomyelin acculation), central retinal artery occlusion |
|
|
Term
|
Definition
| angina (stable: moderation exertion; unstable: minimal exertion) |
|
|
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) |
|
|
Term
| child with fever develops red rash on face that spreads to body |
|
Definition
| "slapped cheecks" (erythema infectiosum/fifth disease: parvovirus B19) |
|
|
Term
| chorea, dementia, caudate degeneration |
|
Definition
| Huntington's disease (autosomal-dominant CAG repeat expansion) |
|
|
Term
| chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria |
|
Definition
| McArdle's disease (muscle glycogen phosphorylase deficiency) |
|
|
Term
|
Definition
|
|
Term
| conjugate lateral gaze palsy, horizontal diplopia |
|
Definition
| internuclear ophthalmoplagia (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 (caused by hypothyroidism, Graves' disease [pretibial]) |
|
|
Term
| dark purple skin/mouth nodules |
|
Definition
| Kaposi's sarcoma (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 deficiency anemia |
|
Definition
| Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
|
|
Term
| elastic skin, hypermobility of joints |
|
Definition
| Ehlers-Danlos syndrome (type III collagen defect) |
|
|
Term
| enlarged, hard left supraclavicular node |
|
Definition
| Virchow's node (abdominal metastasis) |
|
|
Term
| erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
|
Definition
| Sezary syndrome (cutaneous 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 cholelithiasis (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
| Peyronie's 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; increased cancer risk) |
|
|
Term
| hepatosplenomegaly, osteoporosis, neurologic symptoms |
|
Definition
| Gaucher's disease (glucocerebrosidase deficiency) |
|
|
Term
| hereditary nephritis, sensorineural hearing loss, cataracts |
|
Definition
| Alport syndrome (mutation in alpha chain of collagen IV) |
|
|
Term
| hypercoagulability (leading to migrating DVTs and vasculitis) |
|
Definition
| Trousseau's syndrome (adenocarcinoma of pancreas of lungs) |
|
|
Term
| hyperphagia, hypersexuality, hyperorality, hyperdocility |
|
Definition
| Kluver-Bucy syndrome (bilateral amygdala lesion) |
|
|
Term
| hyperreflexia, hypertonia, positive Babinski sign |
|
Definition
|
|
Term
| hypertension, hypokalemia, metabolic alkalosis |
|
Definition
| Conn's syndromehyporeflexia, hypotonia, atrophy |
|
|
Term
| hyporeflexia, hypotonia, atrophy |
|
Definition
|
|
Term
| hypoxemia, polycythemia, hypercapnia |
|
Definition
| "blue bloater" (chronic bronchitis: hyperplasia of mucous cells) |
|
|
Term
| indurated, ulcerated genital lesion |
|
Definition
-- non-painful: chancre (primary syphilis, Treponema pallidum)
-- painful, with exudate: chancroid (Haemophilus ducreyi) |
|
|
Term
| infant with failure to thrive, hepatosplenomegaly, neurodegeneration |
|
Definition
| Niemann-Pick disease (genetic sphingomyelinase deficiency) |
|
|
Term
| infant with hypoglycemia, failure to thrive, and hepatomegaly |
|
Definition
| Cori's disease (debranching enzyme deficiency) |
|
|
Term
| infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect |
|
Definition
| Edwards' syndrome (trisomy 18) |
|
|
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 thrombasthenia (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
| myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance |
|
Definition
| Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency) |
|
|
Term
| necrotizing vasculitis (lungs) and necrotizing glomerulonphritis |
|
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 (suprior trunk [C5-C6] brachial plexus injury: "waiter's tip" |
|
|
Term
| no lactation postpartum, absent menstruation, cold intolerance |
|
Definition
| Sheehan's syndrome (pituitary infarction) |
|
|
Term
| nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia |
|
Definition
|
|
Term
| oscillating slow/fast breathing |
|
Definition
| Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure) |
|
|
Term
| painful blue fingers/toes, hemolytic anemia |
|
Definition
| cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious monomucleosis) |
|
|
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 endocarditis) |
|
|
Term
|
Definition
| cancer of pancreatic head obstructing bile duct |
|
|
Term
| palpable purpura on buttocks/legs, joint pain, abdominal pain (child) |
|
Definition
| Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
|
|
Term
| pancreatic, pituitary, parathyroid tumors |
|
Definition
| MEN 1 (autosomal dominant) |
|
|
Term
| pink complexion, dyspnea, hyperventilation |
|
Definition
| "pink puffer" (emphysemia: 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
|
|
Term
| ptosis, miosis, anhidrosis |
|
Definition
| Horner's syndrome (sympathetic chain lesion) |
|
|
Term
| pupil accommodates but doesn't react |
|
Definition
| Argyll Robertson pupil (neurosyphilis) |
|
|
Term
| rapidly progressive leg weakness that ascents (following GI/URI) |
|
Definition
| Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
|
|
Term
|
Definition
| Coxsackie A (hand-foot-mouth disease), secondary syphilis, Rocky Mountain spotted fever |
|
|
Term
| recurrent colds, unusual eczema, high serum IgE |
|
Definition
| hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality) |
|
|
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
| red urine in the morning, fragile RBCs |
|
Definition
| paroxysmal nocturnal hemoglobinuria |
|
|
Term
| renal cell carcinoma (bilateral), 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 depletion) |
|
|
Term
| retinal hemorrhages with pale centers |
|
Definition
| Roth's spots (bacterial endocarditis) |
|
|
Term
| severe jaundice in neonate |
|
Definition
| Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) |
|
|
Term
| severe RLQ pain with rebound tenderness |
|
Definition
| McBurney's sign (appendicitis) |
|
|
Term
| short stature, increased incidence of tumors/leukemia, aplastic anemia |
|
Definition
| Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
|
|
Term
|
Definition
| Simian crease (Down syndrome) |
|
|
Term
| situs inversus, chronic sinusitis, bonchiectasis, infertility |
|
Definition
| Kartagener's syndrome (dynein arm defect affecting cilia) |
|
|
Term
|
Definition
| Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production) |
|
|
Term
| slow, progressive muscle weakness in boys |
|
Definition
| Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's) |
|
|
Term
| small, irregular red spots on buccal/lingual mucosa with blue-white centers |
|
Definition
| Koplik spots (measles; rubeola virus) |
|
|
Term
| smooth, flat, moist white lesions on genitals |
|
Definition
| condylomata lata (secondary syphilis) |
|
|
Term
| splinter hemorrhages in fingernails |
|
Definition
|
|
Term
|
Definition
| scarlet fever, Kawasaki disease, toxic shock syndrome |
|
|
Term
| streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth |
|
Definition
| Turner syndrome (45XO, 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, pheochromocytoma |
|
Definition
| MEN 2A (autosomal dominant ret mutation) |
|
|
Term
| thyroid tumors, pheochromocytoma, ganglioneuromatosis |
|
Definition
| MEN 2B (autosomal dominant ret mutation) |
|
|
Term
| toe extension/fanning upon plantar scrape |
|
Definition
| Babinski sign (UMN lesion) |
|
|
Term
| unilateral facial drooping involving forehead |
|
Definition
| Bell's palsy (LMN CN VII palsy) |
|
|
Term
| urethritis, conjunctivitis, arthritis in a male |
|
Definition
| reactive arthritis associated with HLA-B27 |
|
|
Term
| vascular birthmark (port-wine stain) |
|
Definition
| hemangioma (benign, but associated with Sturge-Weber syndrome) |
|
|
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, arthritis, fever, adenopathy |
|
Definition
| Whipple's disease (Tropheryma whippelii) |
|
|
Term
| "worst headache of my life" |
|
Definition
|
|
