Term
| Abdominal pain, ascites, hepatomegaly |
|
Definition
| Budd Chiari Syndrome (post hepatic vein thrombosis) |
|
|
Term
| Achillens tendon xanthoma |
|
Definition
| Familial hypercholesterolemia (dec LDL receptor signaling) |
|
|
Term
| Adrenal hemorrhage, hypothension, DIC |
|
Definition
| Waterhouse-Friedrichsen 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 tuberculosis) |
|
|
Term
| bilateral hilar lymphadenopathy, uveitis |
|
Definition
| sarcoidosis (non-caseating granulomas) |
|
|
Term
|
Definition
| Osteogenesis imperfecta (collagen defect) |
|
|
Term
|
Definition
| Burton's line (lead poisoning) |
|
|
Term
| bone pain, bone enlargement, arthritis |
|
Definition
| Paget disease of bone (inc 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 harmartomas) |
|
Definition
NF-1 (+ pheo, optic gliomas)
NF-2 (+ bilateral acoustic neuromas) |
|
|
Term
| Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty |
|
Definition
| McCune Albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
|
Definition
| Muscular dystrophy (most common = Duchenne's) X linked recessive deletion of dystrophin gene |
|
|
Term
| "Cherry-red spot" on macula |
|
Definition
| Tay-Sachs (ganglioside accumulation) or Niemann Pick (spingomyelin accumulation), central retinal artery occlusion |
|
|
Term
|
Definition
| Angina (stable: moderate 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 cheeks" (erythema infectiousum/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 Ophthalmoplegia (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 CT deposition |
|
Definition
| Myxedema (caused by hypothyroidism, Graves' disease [periorbital]) |
|
|
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
|
|
Term
| Dermatitis, dementia, diarrhea |
|
Definition
| Pellagra (niacin[Vit B3] deficiency) |
|
|
Term
| Dilated cardiomyopathy, edema, polyneuropathy |
|
Definition
| Wet beriberi (thiamine [Vit 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 Syndrome (autoimmune destruction of exocrine glands) |
|
|
Term
| Dysphagia (esophageal webs), glossitis, Fe deficiency anemia |
|
Definition
|
|
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 mets) |
|
|
Term
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
|
Definition
| Sezary Syndrome (cutaneous T cell lymphoma) or mycosis fungoides |
|
|
Term
| Facial muslce spasm upon tapping |
|
Definition
| Chvostek's sign (hypocalcemia) |
|
|
Term
| Fat, female, fertile, forty |
|
Definition
| Acute cholelithiasis (bile duct blockage) |
|
|
Term
| Fever, chills, headache, myalgia following Abx treatment for Syphilis |
|
Definition
| Jarish-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 (CT 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 b9 polyposis can cause bowel obstruction; increase 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 change of type IV collagen) |
|
|
Term
| Hypercoagulability (leading to 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
|
|
Term
| Hypertension, HYPOkalemia, metabolic alkaosis |
|
Definition
|
|
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 of primary syphilis, T. pallidum
Painful, with exudate = chanchroid (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 (Type III glycogen storage disease) |
|
|
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 plt aggregation due to lack of GpIIb/IIIa) |
|
|
Term
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supranumerary teeth |
|
Definition
| Gardner’s syndrome (subtype of FAP) |
|
|
Term
| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance |
|
Definition
| Pompe disease (lysosomal alpha-1,4-glucosidase deficiency |
|
|
Term
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis |
|
Definition
| Wegener’s (c-ANCA positive) and Goodpastures syndromes (anti-BM antibodies) |
|
|
Term
| Neonate with arm paralysis following difficult birth |
|
Definition
| Erb-Duchenne palsy (superior truck, [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 opthalmoplegia |
|
Definition
|
|
Term
| Oscillating slow/fast breathing |
|
Definition
| Cheyne-Stokes respirations (central apnea if CHF or inc Intracranial pressure) |
|
|
Term
| Painful blue 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
|
Definition
| Cancer of the pancreatic head obstructing bile duct |
|
|
Term
| Painless erythematous lesions on palms and soles |
|
Definition
| Janeway lesions (infective endocarditis) |
|
|
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: centroancinar = smoking, panacinar = alpha1 Antitrypsin deficiency) |
|
|
Term
| Polyuria, acidosis, growth failure, electrolyte imbalances |
|
Definition
| Fanconi’s syndrome (proximal tubular resorption 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 accommodates but doesn’t react |
|
Definition
| Argyll Robertson pupil (neurosyphilis) |
|
|
Term
| Rapid progressive leg weakness that ascends (following GI/URI) |
|
Definition
| Guillian Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
|
|
Term
|
Definition
| Coxsakie A, 2° syphilis, Rocky Mountain spotted fever |
|
|
Term
| Recurrent colds, unusual eczema, high serum IgE syndrome |
|
Definition
| Hyper-IgE syndrome (Job’s syndrome: neutrophil chemotaxis abnormality) (also: course facial features, retained primary teeth) |
|
|
Term
| Red “currant jelly” sputum in alcoholic or diabetes 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 (defect in DAF, CD55/59) |
|
|
Term
| Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma |
|
Definition
| Von Hippel-Lindau disease (dominant TSG 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, inc 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, bronchiectasis, infertility |
|
Definition
| Kartagener’s syndrome (dynein arm defect affecting cilia) |
|
|
Term
|
Definition
| Addison’s disease (primary adrenocortical insufficiency causes inc ACTH and alpha-MSFH 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 center |
|
Definition
| Koplik’s spots (measles, rubeola virus) |
|
|
Term
| Smooth, flat, moist white lesions on genitals |
|
Definition
| Condulomata 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’s 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 Pro/Lys 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
| Thyroids and parathyroid tumors, pheochromocytoma |
|
Definition
| MEN IIA (Autosomal dominant ret mutation) |
|
|
Term
| Thyroid tumors, pheochromocytoma, ganglioneuromatosis |
|
Definition
| MEN IIB (Autosomal dominant ret mutation) |
|
|
Term
| Toe extension/fanning upon plantar scape |
|
Definition
| Babinski sing (UMN lesion) |
|
|
Term
| Unilateral facial dropping 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
| Subarachnoid hemorrhage (ruptured berry aneurysm) |
|
|
Term
| Partial albinism, recurrent respiratory tract and skin infections, neurologic disorders |
|
Definition
|
|
Term
| Immune deficiency, thrombocytopenic purpura, eczema, recurrent pyogenic infections |
|
Definition
| Wiskcott Aldrich Syndrome (WAITER) |
|
|
Term
| Severe recurrent infections, chronic diarrhea, failure to thrive |
|
Definition
| SCID (severe combined immunodeficiency) |
|
|
Term
| Severe anaphylaxis when exposed to blood products |
|
Definition
| Selective Ig deficiency (IgA = most common) |
|
|
