| Clinical Presentation | Diagnosis, Disease, Condition | Characteristic Info |
| Painful blue fingers toes, hemolytic anemia | |
| Toe extension / fanning upon plantar scrape | |
| Indurated, painful ulcerated genital lesion with exudates | |
| Smooth, flat, moist white lesions on genitals | |
| Large rash with bull’s-eye appearance | |
| Dog or cat bite resulting in infection | |
| Painful, raised red lesions on palms and soles | |
| Male child, recurrent infections, no mature B cells | |
| Muscoal bleeding and prolonged bleeding time | |
| Sudden swollen / painful big toe joint, tophi | |
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia | |
| Infant with hypoglycemia, failure to thrive, and hepatomegaly | |
| Pupil accommodates but doesn’t react | |
| Slow, progressive muscle weakness in boys | |
| Polyuria, acidosis, growth failure, electrolyte imbalances | |
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis | |
| Vomiting blood following esophagogastric lacerations | |
| Rash on palms and soles | |
| Erytheroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | |
| Fever, night sweats, weight loss | |
| Hereditary nephritis, sensorineural hearing loss, cataracts | |
| Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance | |
| Dermatitis, dementia, diarrhea | |
| Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty | |
| Hypertension, hypokalemia, metabolic acidosis | |
| Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection) | |
| Retinal hemorrhages with pale centers | |
| Dark purple skin / mouth nodules | |
| Lucid interval after traumatic brain injury | |
| Achilles tendon xanthoma | |
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis, c-ANCA positive | |
| Green-yellow rings around peripheral cornea | |
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis, anti-basement membrane antibodies | |
| Arachnodactyly, lens discoloration, aortic dissection, hyperflexible joints | |
| Painless jaundice | |
| Conjugate lateral gaze palsy, horizontal diplopia | |
| Swollen gums, mucous leeding, poor wound healing, spots on skin | |
| Continuous “machinery” heart murmur | |
| Child uses arms to stand up from squat | |
| Severe jaundice in neonate | |
| Oscillating slow/fast breathing | |
| | Clinical Presentation | Diagnosis, Disease, Condition | Characteristic Info |
| Dry eyes, dry mouth, arthritis | |
| Splinter hemorrhages in fingernails | |
| Hyperphagia, hypersexuality, hyperorality, hyperdocility | |
| Streak ovaries, congenital heart disease, horseshoe kidney | |
| Pancreatic, pituitary, parathyroid tumors | |
| Keratin pearls in a skin biopsy | |
| Small, irregular red spots on buccal / inguinal mucosa with blue-white centers | |
| Athlete with polycythemia | |
| Fat, female, forty, and fertile | |
| No lactation postpartum, absent menstruation, cold intolerance | |
| Urethritis, conjunctivitis, arthritis in a male | |
| Systolic ejection murmur (crescendo-decrescendo) | |
| Indurated, non-painful ulcerated genital lesion | |
| Bluish line on gingiva | |
| Palpable purpura, joint pain, abdominal pain (child) | |
| Chest pain, pericardial effusion / friction rub, persistent fever following MI | |
| Child with fever develops red rash on face that spread to body | |
| Fever, cough, conjunctivitis, coryza, diffuse rash | |
| Single palm crease | |
| Chronic exercise intolerance with myalgia, fatigue, painful cramps | |
| Café-au-lait spots, Lisch nodules (iris hamartoma), pheochromocytoma, optic gliomas, bilateral acoustic neuromas | |
| “Cherry-red spot” on macula (sphingomyelinase) | |
| Multiple colon polyps, osteomas / soft tissue tumors, impacted / supernumerary teeth | |
| Vasculitis from exposure to endotoxin causing glomerular thrombosis | |
| Resting tremor, rigidity, akinesia, postural instability | |
| Café-au-lait spots, Lisch nodules (iris hamartoma), pheochromocytoma, optic gliomas | |
| Hypercoagulability leading to migrating DVTs and vascultitis | |
| Dilated cardiomyopathy, edema, polyneuropathy | |
| Rash on palms and soles | |
| Jaundice, RUQ pain, fever | |
| Unilateral facial dropping invoving forhead | |
| “Strawberry tongue” (Staph. aureus) | |
| Red “currant jelly” sputum in alcoholic or diabetic patients | |
| Abdominal pain, ascites, hepatomegaly | |
| Neonate with arm paralysis following difficult birth | |
| Bounding pulses, diastolic heart murmur, head bobbing | |
| Bilateral hilar adenopathy, uveitis | |
| Deep labored breathing / hyperventilation | |
| “Strawberry tongue” (Strep. pyogenes) | |
| Pink complexion, dyspnea, hyperventilation | |
| Ptosis, miosis, anhydrosis | |
| | Clinical Presentation | Diagnosis, Disease, Condition | Characteristic Info |
| Adrenal hemorrhage, hypotension, DIC | |
| “Strawberry tongue” (Vasculitis) | |
| Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect | |
| “Waxy” casts with very low urine flow | |
| Hepatosplenomegaly, osteoporosis, neurologic symptoms | |
| Painful, pale, cold fingers / toes | |
| Red, itchy, swollen rash of nipple areola | |
| Gout, mental retardation, self-mutilating behavior in boy | |
| Chorea, dementia, caudate degeneration | |
| Elastic skin, hypermobility of joints | |
| Hamartamous GI polyps, hyperpigmentation of mouth / feet / hands | |
| Red urine in the morning, fragile RBCs | |
| Positive anterior “drawer sign” | |
| Short stature, ↑ incidence of tumors / leukemia, aplastic anemia | |
| Recurrent colds unusual eczema, high serum IgE | |
| Swollen, hard, painful finger joints | |
| Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma | |
| Blue sclera | |
| “Cherry-red spot” on macula (hexosaminidase | |
| “Cherry-red spot” on macula (vascular) | |
| Thyroid and parathyroid tumors, pheochromocytoma | |
| Weight loss, diarrhea, arthritis, fever, adenopathy | |
| Hypoxemia, polycythemia, hypercapnia | |
| Situs inversus, chronic sinusitis, bronchiectasis | |
| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration | |
| Cold intolerance | |
| Calf pseudohypertrophy | |
| Fibrous plaques in soft tissue of penis | |
| Vascular birthmark (port-wine stain) | |
| Facial muscle spasm upon tapping | |
| “Worst headache of my life” | |
| Cutaneous / dermal edema due to connective tissue deposition | |
| Bone pain, bone enlargement, arthritis | |
| Skin hyperpigmentation | |
| Severe RLQ pain with rebound tenderness | |
| Back pain, fever, night sweats, weight loss | |
| Nystagmus, intention tremor, scanning speech, bilateral intranuclear opthalmoplegia | |
| Painful erythematous lesions on palms and soles | |
| WBC casts in urine | |
| Enlarged, hard left supraclavicular node | |
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