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