Term
| Abdominal Pain, Hepatomegaly, Ascites |
|
Definition
Budd-Chiari Syndrome
(Posthepatic Venous Thrombosis) |
|
|
Term
|
Definition
Familial Hypercholesterolemia
(Dec. LDL receptor signaling) |
|
|
Term
| Adrenal hemorrhage, hypotension, DIC |
|
Definition
Waterhouse-Friderichsen syndrome
(Meningococcemia) |
|
|
Term
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints |
|
Definition
Marfan's Syndrome
(Fibrillin defect) |
|
|
Term
| Athlete with polycythemia |
|
Definition
|
|
Term
| Back pain, fever, night sweats, weight loss |
|
Definition
Pott's disease
(Vertebral TB) |
|
|
Term
| Bilateral hilar adenopathy, uveitis |
|
Definition
Sarcoidosis
(Noncaseating granuloma) |
|
|
Term
|
Definition
Osteogenesis Imperfecta
(Collagen Type I defect) |
|
|
Term
|
Definition
Lead poisoning
(Burton's line) |
|
|
Term
| Bone pain, bone enlargement, arthritis |
|
Definition
Paget's disease of the bone
(Inc. osteoclastic AND osteoblastic 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 neuroma) |
|
|
Term
|
Definition
| Muscular dystrophy (usu. Duchenne's): x-linked deletion of the Dystrophin gene |
|
|
Term
| Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty |
|
Definition
| McCune-Albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
| "Cherry Red" spot on macula |
|
Definition
| Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation). OR central retinal artery occlusion. |
|
|
Term
|
Definition
| Angina (stable: moderate exertion; unstable: minimal exertion or rest) |
|
|
Term
| Chest pain, pericardial effusion or friction rub, persistent fever post-MI |
|
Definition
| Dressler's syndrome (autoimmune post-MI fibrinous pericarditis, 1-12 wks after MI) |
|
|
Term
| Child uses arms to stand up from squat |
|
Definition
| Gower's sign (Duchenne muscular dystrophy) |
|
|
Term
| Child with fever develops red rash on face that spreads to body |
|
Definition
| "Slapped cheeks" (Erythema infectiosum/fifth disease; Parvovirus B19) |
|
|
Term
| Chorea, Dementia, Caudate Degeneration |
|
Definition
Huntingon's Dz (autosomal-dominant CAG repeat expansion)
6 C's: Chorea, Crazy (Dementia), Caudate, CAG, Chromosome Cuatro, Cuarenta (onset @ 40) |
|
|
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 opthalmoplegia (Damage to MLF; bilateral in MS, unilateral in CVA) |
|
|
Term
| Continuous "machinery" murmur |
|
Definition
| PDA (held open by Prostaglandins; close w/ indomethacin, keep open w/ misoprostol) |
|
|
Term
| Cutaneous/dermal edema due to connective tissue deposition |
|
Definition
| Myxedema (haused by hypothyroid, Graves' disease (periorbital)) |
|
|
Term
| Dark purple skin/mouth nodules |
|
Definition
| Kaposi's sarcoma (usually in AIDS; HHV-8) |
|
|
Term
| Deep, labored breathing/hyperventilation |
|
Definition
|
|
Term
| Dermatitis, Dementia, Diarrhea (+Death) |
|
Definition
| The 3 D's of vitamin B3 (Niacin) deficiency (Pellagra) |
|
|
Term
| Dilated cardiomyopathy, edema, polyneuropathy |
|
Definition
| Wet beriberi (thiamine (Vitamin B1) deficiency) |
|
|
Term
| Dog or cat bite => infection |
|
Definition
| Pasturella multocida cellulitis |
|
|
Term
| Dry eyes, dry mouth, arthritis |
|
Definition
| Sjogren's Syndrome (Autoimmune destruction of exocrine glands)(Can't see, can't spit, can't climb shit!) |
|
|
Term
| Dysphagia (esophageal web), 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 (Collagen type III 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, Fertile, Forty, Flatulent |
|
Definition
| The 5 F's of acute cholelithiasis |
|
|
Term
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis |
|
Definition
| Jarisch-Herxheimer reaction (rapid lysis of spirochetes => 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/hands/feet |
|
Definition
| Peutz-Jeghers syndrome (genetic benign polyposis => 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 syndrome (mutation in Alpha-chain of collagen IV) |
|
|
Term
| Hypercoagulability (+> migrating DVTs and vasculitis) |
|
Definition
| Trousseau's sign (adenocarcinoma of pancreas or lung) |
|
|
Term
| Hyperphagia, hypersexuality, hyperorality, hyperdocility |
|
Definition
| Kluver-Bucy syndrome (bilateral amygdala lesion) |
|
|
Term
| Hyperreflexia, hypertonia, positive Babinski sign |
|
Definition
| Upper Motor Neuron lesion |
|
|
Term
| Hypertension, hypokalemia, metabolic acidosis |
|
Definition
| Conn's syndrome (primary hyperaldosteronism) |
|
|
Term
| Hyporeflexia, hypotonia, atrophy |
|
Definition
| Lower motor neuron damage |
|
|
Term
| Hypoxemia, polycythemia, hypercapnea |
|
Definition
| "Blue bloater" (Chronic bronchitis, hyperplasia of mucous cells) |
|
|
Term
| Indurated, ulcerated genital lesion |
|
Definition
Non-painful: chancre (syphilis, T. Pallidum)
Painful: chancroid (H. 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, structural heart defect |
|
Definition
| Edward's Disease (trisomy 18) |
|
|
Term
|
Definition
|
|
Term
| Large rash with bull's-eye appearance |
|
Definition
| Erythema chronicum migrans from Lyme disease (Ixodes tick bite => Borrellia burgdorferi) |
|
|
Term
| Lucid interval after traumatic brain injury |
|
Definition
| Epidural hematoma (middle meningeal artery rupture) |
|
|
Term
| Male child, recurrent infections, no mature B cellse |
|
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 Familial Adenomatous Polyposis) |
|
|
Term
| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance |
|
Definition
| Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency) |
|
|
Term
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis |
|
Definition
Wegener's (c-ANCA positive)
Goodpasture's (anti-GBM antibodies) |
|
|
Term
| Neonate with arm paralysis following difficult birth |
|
Definition
| Erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus inury; 'Waiters Tip') |
|
|
Term
| No lactation postpartum, absent menstruation, cold intolerance |
|
Definition
| Sheehan's syndrome (pituitary infarction) |
|
|
Term
| Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia |
|
Definition
|
|
Term
| Oscillating Slow/Fast breathing |
|
Definition
| Cheyne-Stokes respiration (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 mononucleosis) |
|
|
Term
| Painful, pale, cold fingers/toes |
|
Definition
| Reynaud's syndrome (extremity vasospasm) |
|
|
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 (infectious endocarditis) |
|
|
Term
|
Definition
| Cancer of pancreatic head => bile duct obstruction |
|
|
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" (emphysema; centroacinar (smoking), panacinar (alpha-1-antitrypsin deficiency) |
|
|
Term
| Polyuria, acidosis, growth failure, electrolyte imbalance |
|
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 accomodates, but doesn't react |
|
Definition
| Argyll-Robertson Pupil (neurosyphilis) |
|
|
Term
| Rapidly progressive ascending leg weakness following URI/GI infection |
|
Definition
| Guillain-Barre Syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
|
|
Term
|
Definition
| Coxsackie virus A, 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/diabetic pts |
|
Definition
| Klebsiella pneumoniae pneumonia |
|
|
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 (mutation of dominant tumor-suppressor gene) |
|
|
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, incr. 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's syndrome) |
|
|
Term
| Situs inversus, chronic sinusitis, bronchiectasis, infertility |
|
Definition
| Kartagener's syndrome (dynein arm defect affecting cilia) |
|
|
Term
|
Definition
| Addison's disease (Primary adrenocortical insufficiency; incr. in ACTH, 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, tophi |
|
Definition
| Gout (toe = 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
| MEN2A (autosomal dominant ret mutation) |
|
|
Term
| Thyroid tumors, pheochromocytoma, ganglioneuromatosis |
|
Definition
| MEN2B (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 (Can't see, can't pee, can't climb a tree) |
|
|
Term
| Vascular birthmark (Port-wine stain) |
|
Definition
| Hemangioma (Benign, but associated with Sturge-Weber syndrome) |
|
|
Term
| Vomiting blood folling esophagogastric lacerations |
|
Definition
| Mallory-Weiss syndrome (alcoholic or bulimic patients) |
|
|
Term
| "Waxy" casts with very little urine flow |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Weight loss, diarrhea, arthritis, fever, adenopathy |
|
Definition
| Whipple's disease (Tropheryma whippeli) |
|
|
Term
| "Worst headache of my life" |
|
Definition
|
|
