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| Clinical Presentation | Diagnosis / Disease | Notes |
|---|---|---|
| Gout, intellectual disability, self-mutilating behavior in a boy | Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) |
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| Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility | Primary ciliary dyskinesia (Kartagener syndrome) |
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| Blue sclera, multiple fractures, dental problems, conductive/mixed hearing loss | Osteogenesis imperfecta (type I collagen defect) |
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| Elastic skin, joint hypermobility, bleeding tendency | Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype) |
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| Arachnodactyly, lens dislocation (upward & temporal) aortic dissection, hyperflexible joints |
Marfan syndrome (defective fibrillin-1) | |
| Arachnodactyly, pectus deformity, lens dislocation (downward & nasal) | Homocystinuria (autosomal recessive cystathionine synthase deficiency) | |
| Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities | McCune-Albright syndrome (Gs-protein activating mutation) | |
| Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility, malabsorption/vitamin deficiencies | Cystic fibrosis (CFTR gene defect, chromosome 7, ΔF508) | |
| Calf pseudohypertrophy | Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene) | |
| Child uses arms to stand up from squat | Duchenne muscular dystrophy (Gowers sign) | |
| Slow, progressive muscle weakness in boys | Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne) |
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| Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia | Patau syndrome (trisomy 13) | |
| Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect | Edwards syndrome (trisomy 18) | |
| Single palmar crease, flat facies, prominent epicanthal folds, congenital heart disease, intellectual disability | Down syndrome (trisomy 21) | |
| Microcephaly, high-pitched cry, intellectual disability | Cri-du-chat (cry of the cat) syndrome congenital deletion on short arm of chromosome 5 |
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| Confusion, ophthalmoplegia/nystagmus, ataxia | Wernicke encephalopathy (add confabulation/memory loss and personality changes for Korsakoff syndrome) |
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| Dilated cardiomyopathy/high-output heart failure, edema, alcoholism or malnutrition | Wet beriberi (thiamine [vitamin B1] deficiency) | |
| Dermatitis, dementia, diarrhea | Pellagra (niacin [vitamin B3] deficiency) |
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| “Burning feet syndrome,” dermatitis, enteritis, alopecia | Pantothenic acid (vitamin B5) deficiency | |
| Megaloblastic anemia, subacute combined degeneration, paresthesias, cognitive changes | Cobalamin (vitamin B12) deficiency; malabsorption, decreased intrinsic factor, absent terminal ileum | |
| Swollen gums, mucosal bleeding, poor wound healing, petechiae, corkscrew hairs, perifollicular hemorrhages | Scurvy (vitamin C deficiency: inability to hydroxylate proline/lysine for collagen synthesis); tea and toast diet | |
| Bowlegs (children), bone pain, and muscle weakness | Vitamin D deficiency: rickets (children), osteomalacia (adults); sun exposure, chronic kidney disease | |
| Hemorrhagic disease of newborn with ↑aPTT, normal bleeding time | Vitamin K deficiency | |
| Intellectual disability, musty body odor, hypopigmented skin, eczema | Phenylketonuria (tetrahydrobiopterin [BH4] deficiency) |
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| Bluish-black connective tissue, ear cartilage, sclerae; severe arthralgias; urine turns black on prolonged exposure to air | Alkaptonuria (homogentisate oxidase deficiency; ochronosis) |
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| Infant with hypoglycemia, hepatomegaly, cardiomyopathy | Cori disease (debranching enzyme deficiency) or von Gierke disease (glucose-6-phosphatase deficiency, more severe) |
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| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria | McArdle disease (skeletal muscle glycogen phosphorylase deficiency) |
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| “Cherry-red spot” on macula | Tay-Sachs (no hepatosplenomegaly); Niemann-Pick (with hepatosplenomegaly); or central retinal artery occlusion | |
| Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises | Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency) | |
| Achilles tendon xanthoma, corneal arcus | Familial hypercholesterolemia (↓LDL receptor signaling) | |
| Male child, recurrent infections, no mature B cells | Bruton disease (X-linked agammaglobulinemia [BTK gene defect]) | |
| Anaphylaxis following blood transfusion, atopy, airway/GI infections, autoimmune disease | Selective IgA deficiency | |
| Recurrent cold (noninflamed) abscesses, eczema, ↑serum IgE, eosinophils | Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality; STAT3 mutation) | |
| Late separation (> 30 days) of umbilical cord, no pus, recurrent skin and mucosal bacterial infections | Leukocyte adhesion deficiency (type 1; defective LFA-1 [CD18] integrin) | |
| Recurrent infections and granulomas with catalase ⊕ organisms | Chronic granulomatous disease (defective NADPH oxidase) |
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| Fever, vomiting, diarrhea, desquamating rash after prolonged use of nasal pack or tampon | Staphylococcal toxic shock syndrome | |
| “Strawberry tongue” | Scarlet fever (sandpaper rash) Kawasaki disease (lymphadenopathy, high fever for 5 days) |
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| Colon cancer associated with infective endocarditis | Streptococcus gallolyticus (formerly S. bovis) | |
| Descending flaccid paralysis in newborn after honey ingestion | Clostridium botulinum infection (“floppy baby syndrome”) | |
| Abdominal pain, diarrhea, leukocytosis, recent antibiotic use | Clostridioides difficile infection | |
| Grayish-white pseudomembranous pharyngitis with “bull’s neck” appearance | Corynebacterium diphtheriae infection | |
| Back pain, fever, night sweats | Pott disease (vertebral TB) | |
| Acute adrenal insufficiency, fever, bilateral adrenal hemorrhage | Waterhouse-Friderichsen syndrome (meningococcemia) | |
| Red “currant jelly” sputum in patients with alcohol overuse or diabetes | Klebsiella pneumoniae | |
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis | Jarisch-Herxheimer reaction (host response to sudden release of bacterial antigens) |
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| Large rash with bull’s-eye appearance, flu-like symptoms | Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia bacteria) | |
| Ulcerated genital lesion | Nonpainful, indurated: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi) |
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| Smooth, moist, painless, wartlike white lesions on genitals | Condylomata lata (2° syphilis) | |
| Pupil accommodates but doesn’t react to light | Argyll Robertson pupil (3° syphilis/neurosyphilis) | |
| Dog or cat bite resulting in infection (cellulitis, osteomyelitis) | Pasteurella multocida (cellulitis at inoculation site) | |
| Atypical “walking pneumonia” with x-ray looking worse than the patient | Mycoplasma pneumoniae infection | |
| Rash on palms and soles | Coxsackie A infection, Rocky Mountain spotted fever, 2° syphilis | |
| Black eschar on face of patient with diabetic ketoacidosis and/or neutropenia | Mucor or Rhizopus fungal infection | |
| Chorioretinitis, hydrocephalus, intracranial calcifications, ± blueberry muffin rash | Congenital toxoplasmosis | |
| Pruritus, serpiginous rash after walking barefoot, microcytic anemia | Hookworm (Ancylostoma spp, Necator americanus) | |
| Febrile child later develops red facial rash with subsequent spread to body | Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19) | |
| Fever, cough, conjunctivitis, coryza, diffuse rash, Koplik spots | Measles (rubeola) virus | |
| Systolic ejection murmur (crescendo-decrescendo), “pulsus parvus et tardus,” syncope, angina, dyspnea on exertion | Aortic stenosis | |
| Hyperdynamic pulses, wide pulse pressure, early diastolic murmur (decrescendo), head bobbing | Aortic regurgitation | |
| Continuous “machinelike” murmur | PDA (close with indomethacin; keep open with PGE1 and PGE2 analogs) | |
| Chest pain on exertion | Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest) | |
| Chest pain with ST depressions on ECG | Angina (− troponins) NSTEMI (+ troponins) |
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| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Postcardiac injury syndrome (autoimmune-mediated post-MI pericarditis, weeks to several months after acute episode) |
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| Distant heart sounds, distended neck veins, hypotension | Beck triad of cardiac tamponade | |
| Painful, raised red/purple lesions on pads of fingers/toes | Osler nodes (immune complex deposition in infective endocarditis) | |
| Painless erythematous lesions on palms and soles | Janeway lesions (septic emboli/microabscesses in infective endocarditis) | |
| Splinter hemorrhages in fingernails | Infective endocarditis | |
| Retinal hemorrhages with pale centers | Roth spots (infective endocarditis) | |
| Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria | Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) | |
| Polyuria, polydipsia | Primary polydipsia, diabetes mellitus (type 1 or 2), diabetes insipidus (central, nephrogenic) | |
| Infant with vomiting, lethargy, jaundice, hepatomegaly after breastfeeding | Classic galactosemia (GALT deficiency) | |
| Hypoglycemia, hepatomegaly, seizures, lactic acidosis in infant | Von Gierke disease (glucose-6-phosphatase deficiency) | |
| Hyperextensible skin, joint hypermobility, bleeding tendency | Ehlers-Danlos syndrome | |
| Fair skin, light hair and eyes, intellectual disability, musty odor | Phenylketonuria (phenylalanine hydroxylase or BH4 deficiency) | |
| Weak cry, hypotonia, tongue protrusion, umbilical hernia | Congenital hypothyroidism | |
| Infant with abdominal distension, no meconium, family history of thyroid disease | Hirschsprung disease | |
| Vomiting, polyhydramnios, gasless abdomen on x-ray in newborn | Esophageal atresia with/without tracheoesophageal fistula | |
| Downward lens dislocation, thrombosis, Marfanoid habitus | Homocystinuria | |
| Hypoglycemia, hepatomegaly, hypotonia after fasting in infant | Cori disease | |
| High fever, seizures, diffuse rash that starts on trunk then spreads | Roseola (HHV-6/7) | |
| Recurrent otitis media, sinopulmonary infections, low IgG/IgA/IgE | Common variable immunodeficiency (CVID) | |
| Failure to thrive, recurrent infections, chronic diarrhea | Severe combined immunodeficiency (SCID) | |
| Infant with cleft palate, micrognathia, wide-spaced eyes, absent thymic shadow | DiGeorge syndrome (22q11 deletion) | |
| Persistent fever, splenomegaly, pancytopenia, intracellular amastigotes | Visceral leishmaniasis | |
| Child with sore throat, sandpaper rash, strawberry tongue | Scarlet fever (Group A Strep pyogenes) | |
| Fever, conjunctivitis, pharyngitis, preauricular lymphadenopathy | Adenovirus (pharyngoconjunctival fever) | |
| Sudden cessation of inspiration during RUQ palpation | Murphy sign (cholecystitis) | |
| Increased creatinine after starting ACE inhibitor | Bilateral renal artery stenosis | |
| Sudden flank pain, hematuria, no stones on imaging | Renal papillary necrosis (e.g. sickle cell, NSAIDs, diabetes) | |
| Hematuria, sensorineural hearing loss, lens abnormalities | Alport syndrome | |
| Tea-colored urine, recent sore throat, facial edema | Poststreptococcal glomerulonephritis | |
| Child with hematuria, abdominal pain, palpable purpura | IgA vasculitis (Henoch-Schönlein purpura) | |
| Hematuria, flank pain, abdominal mass in adult | Renal cell carcinoma | |
| Post-transplant fever, biopsy with dense lymphocyte infiltrate | Acute transplant rejection (cell-mediated) | |
| Post-transplant hypertension, gradual loss of function, fibrosis on biopsy | Chronic transplant rejection | |
| Golden brown rings around peripheral cornea | Wilson disease (Kayser-Fleischer rings due to copper accumulation) | |
| Female, fat (obese), fertile (multiparity), forty, fair, feeds (TPN), fasting (rapid weight loss) | Cholelithiasis (gallstones) | |
| Bluish line on gingiva | Burton line (lead poisoning) | |
| Short stature, café-au-lait spots, thumb/radial defects, ↑incidence of tumors/leukemia, aplastic anemia (pancytopenia) | Fanconi anemia (genetic defect in DNA crosslink repair; often progresses to AML) | |
| Red/pink urine in the morning, pancytopenia, venous thrombosis | Paroxysmal nocturnal hemoglobinuria | |
| Painful blue fingers/toes, hemolytic anemia | Cold autoimmune hemolytic anemia (caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL) |
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| Petechiae, mucosal bleeding, ↑bleeding time | Platelet disorders (e.g. Glanzmann thrombasthenia, Bernard-Soulier, HUS, TTP, ITP, uremic platelet dysfunction) |
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| Low-grade fever, night sweats, weight loss | “B” symptoms of malignancy | |
| Erythematous patches → plaques → tumors | Mycosis fungoides (cutaneous T-cell lymphoma) | |
| Neonate with arm in “waiter’s tip” position following difficult birth | Erb palsy (superior trunk [C5-C6] brachial plexus injury) | |
| Anterior drawer sign ⊕ (tibia glides anteriorly with respect to femur when knee is at 90° angle) | Anterior cruciate ligament (ACL) injury | |
| Mosaic pattern of bone, long bone chalk-stick fractures, skull thickening, hearing loss | Osteitis deformans (Paget disease of bone, ↑osteoblastic and osteoclastic activity) | |
| Swollen, hard, painful finger joints in an elderly individual, pain worse with activity | Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes]) | |
| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia) | |
| Dry eyes and mouth, arthritis, parotid enlargement | Sjögren syndrome (autoimmune destruction of exocrine glands) | |
| Urethritis, conjunctivitis, arthritis | Reactive arthritis associated with HLA-B27 | |
| “Butterfly” facial rash, arthritis, cytopenia, and fever in a female of reproductive age | Systemic lupus erythematosus | |
| Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes (edema, erythema), fever ≥ 5 days | Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin) | |
| Palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria in a child | IgA vasculitis (Henoch-Schönlein purpura, affects skin and kidneys) | |
| Painful fingers/toes changing color from white to blue to red with cold or stress | Raynaud phenomenon (vasospasm in extremities) | |
| Dark purple skin/mouth nodules in a patient with AIDS | Kaposi sarcoma, associated with HHV-8 | |
| Pruritic, purple, polygonal planar papules and plaques (6 Ps) | Lichen planus | |
| Dorsiflexion of large toe with fanning of other toes upon plantar scrape | Babinski sign (UMN lesion) | |
| Intention tremor, limb ataxia, loss of balance (fall toward injured side) | Cerebellar lesion (hemispheric affects voluntary movement of extremities; vermis affects axial and proximal movement) | |
| Hyperphagia, hypersexuality, hyperorality | Klüver-Bucy syndrome (bilateral amygdala lesion; HSV-1 encephalitis) | |
| No lactation postpartum, absent menstruation, cold intolerance | Sheehan syndrome | severe postpartum hemorrhage → pituitary infarction |
| Heat intolerance, weight loss, palpitations, fine tremor, hyperreflexia | Hyperthyroidism | – |
| Cold intolerance, weight gain, brittle hair, depressed mood, hyporeflexia | Hypothyroidism | – |
| Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue | Myxedema | caused by hypothyroidism or hyperthyroidism [Graves disease] |
| Facial muscle spasm upon tapping | Chvostek sign (hypocalcemia) | – |
| Carpal spasm upon BP cuff inflation | Trousseau sign (hypocalcemia) | – |
| Rapid, deep, labored breathing/hyperventilation | Diabetic ketoacidosis (Kussmaul respirations) | – |
| Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances | Chronic 1° adrenal insufficiency (Addison disease) ↑ACTH, ↑MSH | – |
| Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue in patient on glucocorticoid therapy | Acute adrenal insufficiency (adrenal crisis) | – |
| Pancreatic, pituitary, parathyroid tumors | MEN1 (autosomal dominant MEN1 mutation) | – |
| Medullary thyroid carcinoma, parathyroid hyperplasia, pheochromocytoma | MEN2A (autosomal dominant RET mutation) | – |
| Medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, marfanoid habitus | MEN2B (autosomal dominant RET mutation) | – |
| Cutaneous flushing, diarrhea, bronchospasm, right-sided heart murmur | Carcinoid syndrome (urinary 5-HIAA); indicates systemic dissemination (e.g. post–liver metastases) | – |
| Jaundice, palpable distended nontender gallbladder | Courvoisier sign | distal obstruction of common bile duct by pancreatic head malignancy |
| Hematemesis ± abdominal/back pain | Mallory-Weiss syndrome | partial thickness esophageal lacerations in alcohol use disorder, bulimia nervosa |
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia | Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) | – |
| Enlarged, firm left supraclavicular node | Virchow node (metastasis from stomach malignancy) | – |
| Hematemesis, melena | Upper GI bleed | e.g. peptic ulcer disease |
| Hematochezia | Lower GI bleed (e.g. colonic diverticulosis) | – |
| Arthralgias, cardiac and neurological symptoms, diarrhea | Whipple disease (Tropheryma whipplei) | – |
| Severe RLQ pain with palpation of LLQ | Rovsing sign (acute appendicitis) | – |
| Severe RLQ pain with deep palpation | McBurney sign (acute appendicitis) | – |
| Hamartomatous GI polyps, hyperpigmented macules on mouth, lips, hands, genitalia | Peutz-Jeghers syndrome | autosomal dominant, benign polyposis; breast/GI cancer risk |
| Thousands of colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth | Gardner syndrome (subtype of familial adenomatous polyposis) | – |
| Severe jaundice, kernicterus (neurological changes) in neonate | Crigler-Najjar syndrome, type I (congenital unconjugated hyperbilirubinemia) | – |
| Green/yellow rings around peripheral cornea + movement disorder | Wilson disease | Kayser-Fleischer rings, hepatolenticular degeneration |
| Painful hepatomegaly, ↑α-fetoprotein | Hepatocellular carcinoma | – |
| Abdominal pain, ascites, hepatomegaly | Budd-Chiari syndrome (posthepatic venous thrombosis) | – |
| Infant with vomiting, lethargy, seizures, ↑ammonia | Ornithine transcarbamylase deficiency (urea cycle disorder) | – |
| Elevated conjugated bilirubin, black liver | Dubin-Johnson syndrome (benign defect in hepatic excretion) | – |
| Elevated unconjugated bilirubin without overt hemolysis | Gilbert syndrome | benign congenital bilirubin uptake defect |
| Kayser-Fleischer rings, low ceruloplasmin, liver and neuro symptoms | Wilson disease (AR ATP7B mutation) | – |
| Fatigue, pruritus, hepatomegaly, antimitochondrial antibodies | Primary biliary cholangitis | autoimmune destruction of bile ducts |
| Fat-soluble vitamin deficiency, biliary fibrosis, associated with IBD | Primary sclerosing cholangitis | associated with ulcerative colitis, p-ANCA ⊕ |
| RUQ pain, fever, jaundice | Cholangitis | Charcot triad; often due to ascending infection |
| RUQ pain, jaundice, fever, hypotension, altered mental status | Reynolds pentad (suppurative ascending cholangitis) | – |
| RUQ pain after fatty meal, positive Murphy sign | Cholecystitis | – |
| Weight loss, abdominal pain radiating to back, obstructive jaundice with palpable gallbladder | Pancreatic adenocarcinoma (often in pancreatic head) | – |
| Sudden epigastric pain, ↑amylase/lipase | Acute pancreatitis | – |
| Steatorrhea, ADEK deficiency, weight loss | Chronic pancreatitis | – |
| Burns, trauma, sepsis, curled up patient with ulcers | Curling ulcer | acute gastric ulcer associated with severe stress |
| Head trauma, Cushing reflex, gastric ulcers | Cushing ulcer | ↑vagal stimulation after CNS injury |
| Increased urine 5-HIAA, diarrhea, bronchospasm, right-sided heart lesions | Carcinoid syndrome | neuroendocrine tumor metastasis to liver |
| Gastric/duodenal ulcers, high gastrin | Zollinger-Ellison syndrome (gastrinoma) | – |
| Postprandial epigastric pain, food aversion/weight loss | Chronic mesenteric ischemia (“intestinal angina”) | – |
| Bright red blood per rectum in elderly | Diverticulosis (often sigmoid colon) | – |
| Sudden onset LLQ pain, fever, leukocytosis | Diverticulitis | – |
| Melena, pain relieved by meals | Duodenal ulcer (↓ with food, H. pylori associated) | – |
| Melena, pain worse with meals | Gastric ulcer | ↑ with food, often due to NSAIDs |
| Intestinal biopsy: villous atrophy, crypt hyperplasia, intraepithelial lymphocytosis | Celiac disease (gluten sensitivity; anti-tTG/EMA antibodies) | – |
| Postprandial bloating, flatulence, osmotic diarrhea | Lactose intolerance | low lactase levels in brush border |
| Infant with bilious vomiting, “double bubble” sign on x-ray | Duodenal atresia (associated with Down syndrome) | – |
| Projectile vomiting in infant, visible peristalsis, palpable mass | Pyloric stenosis (firstborn males) | – |
| 3–5 day old with failure to pass meconium | Hirschsprung disease | congenital aganglionosis of colon |
| Meconium ileus | Cystic fibrosis | – |
| Red currant jelly stools, sausage-shaped mass in abdomen, sudden episodic abdominal pain | Intussusception | often idiopathic or associated with rotavirus, Meckel diverticulum |
| Abdominal pain, bloody diarrhea after recent travel | Enterohemorrhagic E. coli, Shigella, Campylobacter, or Entamoeba histolytica | – |
| Lead pipe appearance of colon on imaging | Ulcerative colitis | – |
| Transmural inflammation, fistulas, noncaseating granulomas | Crohn disease (skip lesions, any GI site) | – |
| Male child with abdominal pain, currant jelly stools, palpable mass | Intussusception | – |
| GI bleeding with painless bright red rectal blood in toddler | Meckel diverticulum (ectopic gastric tissue) | – |
| Currant jelly stool + failure to pass meconium | Intussusception vs Hirschsprung | distinguish by onset, air enema diagnostic and therapeutic |
| Abdominal pain out of proportion to exam | Acute mesenteric ischemia | – |
| Severe abdominal pain after meals in older adult | Chronic mesenteric ischemia (intestinal angina) | – |
| Colonoscopic biopsy showing pseudopolyps, crypt abscesses | Ulcerative colitis | – |
| Terminal ileum involvement, skip lesions, cobblestoning, fistulas | Crohn disease | – |
| Young female with RLQ pain, ovarian mass on imaging | Ovarian torsion (twisting of infundibulopelvic ligament) | – |
| Pelvic pain, adnexal tenderness, fever, cervical motion tenderness | Pelvic inflammatory disease | usually from N. gonorrhoeae or C. trachomatis |
| Pelvic mass + ascites + high CA-125 | Ovarian cancer | – |
| Vaginal bleeding, enlarged uterus, snowstorm on ultrasound | Hydatidiform mole | – |
| Uterine bleeding + markedly ↑β-hCG + early pregnancy symptoms | Complete mole (46,XX or XY, no fetal parts) | – |
| Postpartum hemorrhage unresponsive to uterotonics | Retained placental tissue | – |
| Postpartum hemorrhage with failure to lactate | Sheehan syndrome (pituitary infarct) | – |
| Postpartum fever, uterine tenderness, foul lochia | Endometritis (polymicrobial infection) | – |
| Uterine enlargement, menorrhagia, pelvic pressure, reproductive-age woman | Leiomyoma (fibroid) | – |
| Pelvic pain, dysmenorrhea, dyspareunia, infertility | Endometriosis (ectopic endometrial glands/stroma) | – |
| Postmenopausal bleeding, endometrial hyperplasia | Endometrial carcinoma (often preceded by hyperplasia) | – |
| Breast mass + skin tethering or dimpling | Invasive breast cancer (e.g. invasive ductal carcinoma) | – |
| Multiple bilateral breast masses that fluctuate with hormones | Fibrocystic changes (most common benign breast condition) | – |
| Painless breast lump in a young woman | Fibroadenoma (benign, estrogen-sensitive) | – |
| Painful breast mass after trauma or surgery | Fat necrosis | – |
| Painless breast lump + serous/bloody nipple discharge + skin changes (eczema) | Paget disease of the breast (DCIS or invasive cancer) | – |
| Nipple discharge + central papilloma on histology | Intraductal papilloma | – |
| Painful swelling of breast tissue in a male | Gynecomastia | ↑estrogen:circulating androgen ratio |
| Menorrhagia, dysmenorrhea, enlarged tender uterus | Adenomyosis (endometrial tissue in myometrium) | – |
| Primary amenorrhea with normal secondary sex characteristics + no uterus | Müllerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) | – |
| Primary amenorrhea, uterus present, breasts absent | Gonadal dysgenesis (e.g. Turner syndrome) | – |
| Short stature, webbed neck, widely spaced nipples, primary amenorrhea | Turner syndrome (45,XO) | – |
| Primary amenorrhea, normal ovaries and uterus, no pubic/axillary hair | Androgen insensitivity syndrome (46,XY, complete resistance) | – |
| Hypotension, tachycardia, pulsatile bleeding from uterus after delivery | Uterine atony | – |
| Abnormal bleeding, history of uterine surgery, placenta attaches to myometrium | Placenta accreta | – |
| Sudden onset intense uterine pain, loss of fetal station, history of C-section | Uterine rupture | – |
| Painful third-trimester bleeding | Placental abruption | – |
| Painless third-trimester bleeding | Placenta previa | – |
| Severe hypertension + proteinuria + seizures during pregnancy | Eclampsia | – |
| Hypertension, proteinuria, edema in pregnant woman after 20 weeks | Preeclampsia | – |
| Premature cervical dilation in second trimester | Cervical insufficiency | – |
| Low AFP, estriol; high β-hCG, inhibin A | Down syndrome (second trimester quad screen) | – |
| Low β-hCG, low PAPP-A, nuchal translucency | Trisomy 13 or 18 (first trimester screen) | – |
| Elevated maternal serum AFP | Neural tube defects, abdominal wall defects (e.g. omphalocele, gastroschisis) | – |
| Fetal bradycardia, sinusoidal pattern on fetal heart tracing | Fetal anemia (e.g. Rh isoimmunization, fetomaternal hemorrhage) | – |
| Postcoital bleeding, irregular vaginal discharge, cervical friability | Cervical cancer (HPV-associated) | – |
| Postmenopausal woman with adnexal mass + estrogen symptoms | Granulosa cell tumor | ↑inhibin, ↑estrogen, Call-Exner bodies |
| Young girl with precocious puberty, adnexal mass | Juvenile granulosa cell tumor | – |
| β-hCG–secreting tumor in men or women; may present with gynecomastia or early puberty | Choriocarcinoma (malignant trophoblastic tumor) | – |
| Elevated β-hCG, normal AFP, testicular mass | Seminoma (germ cell tumor) | – |
| Elevated AFP, testicular mass in male child | Yolk sac (endodermal sinus) tumor (Schiller-Duval bodies) | – |
| Painless scrotal mass that transilluminates | Hydrocele (tunica vaginalis fluid collection) | – |
| Painless scrotal swelling that does not transilluminate | Varicocele | bag of worms, dilated pampiniform plexus |
| Severe testicular pain, absent cremasteric reflex | Testicular torsion | – |
| Testicular pain, relief with elevation | Epididymitis (e.g. C. trachomatis, N. gonorrhoeae, E. coli) | – |
| Gynecomastia, small testes, long limbs, infertility | Klinefelter syndrome (47,XXY) | – |
| Ambiguous genitalia in newborn + hyponatremia, hyperkalemia, hypotension | 21-hydroxylase deficiency (congenital adrenal hyperplasia) | – |
| Precocious puberty, hypertension, low renin | 11β-hydroxylase deficiency (congenital adrenal hyperplasia) | – |
| Hypertension, hypokalemia, metabolic alkalosis, low aldosterone, low renin | Apparent mineralocorticoid excess | 11β-HSD2 deficiency or glycyrrhetinic acid from licorice |
| Testicular mass, elevated β-hCG and AFP | Nonseminomatous germ cell tumor (e.g. embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma) | – |
| Back pain, impotence, urinary symptoms, osteoblastic lesions on imaging | Prostate cancer with metastasis to bone | – |
| Night sweats, weight loss, painless lymphadenopathy | Hodgkin lymphoma (Reed-Sternberg cells) | – |
| Sudden onset chest pain, dyspnea, tachycardia in patient with recent immobilization or surgery | Pulmonary embolism | – |
| Sharp chest pain worse with inspiration, friction rub | Pleuritis or pericarditis | – |
| Sudden onset dyspnea, decreased breath sounds, hyperresonance to percussion | Pneumothorax | – |
| Progressive dyspnea, dry cough, clubbing, crackles | Idiopathic pulmonary fibrosis | – |
| Fever, cough, pleuritic chest pain, hemoptysis, cavitary lesion on imaging | Aspergillus infection (e.g. aspergilloma) | – |
| Granulomatous inflammation of lung, kidney, and nasopharynx; hematuria, sinusitis | Granulomatosis with polyangiitis (Wegener, c-ANCA+) | – |
| Upper respiratory tract symptoms, asthma, eosinophilia | Eosinophilic granulomatosis with polyangiitis (Churg-Strauss, p-ANCA+) | – |
| Dyspnea, chest pain, hemorrhagic pleural effusion, pleural thickening | Mesothelioma (asbestos exposure) | – |
| Post-URI cough > 3 weeks with clear CXR | Postviral cough (bronchial hyperreactivity) | – |
| Fever, night sweats, weight loss, cavitary lung lesion, immigrant | Tuberculosis (Mycobacterium tuberculosis) | – |
| Hemoptysis, cough, fever, weight loss; acid-fast bacilli in sputum | Active TB (pulmonary or disseminated) | – |
| Posttransplant pneumonia + elevated LDH + bilateral infiltrates | Pneumocystis jirovecii pneumonia (opportunistic fungus) | – |
| Bone pain, anemia, renal failure, hypercalcemia | Multiple myeloma (plasma cell dyscrasia) | – |
| Upper lobe cavitary lesion, hemoptysis, chronic cough, smoking history | Squamous cell carcinoma of lung | – |
| Hyponatremia, confusion, lung mass on x-ray | Small cell lung carcinoma (SIADH paraneoplastic syndrome) | – |
| Gynecomastia, galactorrhea, impotence in man with lung mass | Large cell carcinoma (produces β-hCG) | – |
| Lung nodule with carcinoid histology, wheezing, flushing, diarrhea | Bronchial carcinoid tumor (serotonin-secreting) | – |
| Child with inspiratory stridor, barking cough | Croup (parainfluenza virus) | – |
| Drooling, dysphagia, thumbprint sign on x-ray | Epiglottitis (H. influenzae type B) | – |
| Child with nasal polyps, meconium ileus, steatorrhea, recurrent infections | Cystic fibrosis | – |
| Unilateral renal mass in child, abdominal distension, hematuria, HTN | Wilms tumor (WT1/WT2 gene mutation) | – |
| Diuretic use, hyperaldosteronism, vomiting | Metabolic alkalosis | – |
| Severe diarrhea, RTA, carbonic anhydrase inhibitors | Normal anion gap metabolic acidosis | – |
| Diabetic ketoacidosis, methanol ingestion, salicylate toxicity | High anion gap metabolic acidosis | – |
| Dark urine, pale stools, jaundice, pruritus | Cholestasis (e.g. obstructive or intrahepatic) | – |
| Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia | Prader-Willi syndrome (loss of paternal allele on chromosome 15) | Angelman: Maternal allele in |
| Seizures, facial angiofibromas, cardiac rhabdomyoma, ash leaf spots | Tuberous sclerosis (TSC1/TSC2 mutation) | – |
| Port-wine stain, leptomeningeal angioma, seizures, intellectual disability | Sturge-Weber syndrome (somatic mosaic GNAQ mutation) | – |
| Hematuria, hearing loss, ocular disturbances | Alport syndrome (type IV collagen defect) | – |
| Swelling in newborn scalp that crosses suture lines | Caput succedaneum | – |
| Swelling in newborn scalp that does not cross suture lines | Cephalohematoma | – |
| Newborn with cyanosis relieved by squatting | Tetralogy of Fallot (RVOT obstruction, VSD, overriding aorta, RVH) |
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