Term
| Abdominal pain, ascites, hepatomegaly |
|
Definition
| Budd-Chiari syndrome(post hepatic venous thrombosis) |
|
|
Term
|
Definition
| familial hypercholesterolemia (decreased LDL receptor signalling) |
|
|
Term
| Adrenal hemorrhage, hypotension, DIT |
|
Definition
| Waterhouse-Friderichsen syndrome -menigococcemia from neisseria meningitidis |
|
|
Term
| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints |
|
Definition
| Marfan syndrome (fibrillin defect) |
|
|
Term
| Athlete with polycythemia |
|
Definition
|
|
Term
| Back pain, fever, night sweats, weight loss |
|
Definition
| Pott's syndrome (vertebral tuberculosis) |
|
|
Term
| bilateral hilar adenopathy, uveitis |
|
Definition
|
|
Term
|
Definition
| Osteogenesis imperfecta (Type I collagen defect) |
|
|
Term
|
Definition
| Burton's line (lead poisoning) |
|
|
Term
| Bone pain, bone enlargement, arthritis |
|
Definition
| Paget's disease of bone(excess bony turnover d/t increased osteoclast and osteoblast activity). Marker= increased ALK phosphatase |
|
|
Term
| Bounding pulses, diastolic heart murmur, head bobbing |
|
Definition
|
|
Term
| "Butterfly" facial rash, Raynaud's phenomenon in a young girl |
|
Definition
|
|
Term
| Cafe-au-lait spots, Lisch nodules (iris hamartoma) |
|
Definition
Neurofibromatosis type I (+pheochromcytoma, optic gliomas)
Neurofibromatosis II (+bilateral acoustic neuromas) |
|
|
Term
| Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, short stature in a young girl |
|
Definition
| McCune albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
|
Definition
| Duchenne muscular dystrophy (X-linked recessive deletion of dystrophin gene) |
|
|
Term
| "Cherry red spot" on macula (3) |
|
Definition
Tay-Sachs (ganglioside accumulation)
Neimann Pick (sphingomyelin accumulation)
central retinal artery occlusion |
|
|
Term
|
Definition
| Angina (stable:moderate exertion; unstable: minimal or no exertion) |
|
|
Term
| chest pain, pericardial effusion/friction rub, persistant 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 marginatum/fifth's disease: B19 parvovirus) |
|
|
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 ophthaloplegia (damage to MLF; bilateral=MS, unilateral=stroke) |
|
|
Term
| Continuous "machinery" heart murmur |
|
Definition
| PDA; closed with indomethacin, kept open with misoprostol) |
|
|
Term
| Cutaneous/dermal edema due to connective tissue damage |
|
Definition
| Myxedema (caused by hypothyroidism, Graves disease) |
|
|
Term
| Dark purple skin/mouth lesions |
|
Definition
| Kaposi sarcoma (associated with HHV8 in AIDS patients) |
|
|
Term
| Deep labored breathing/hyperventilation |
|
Definition
| Kussmaul breathing (diabetic ketoacidosis) |
|
|
Term
| Dermatitis, dementia, diarrhea |
|
Definition
| Pellegra (niacin/B3 deficiency) |
|
|
Term
| dilated cardiomyopathy, edema, polyneuropathy |
|
Definition
| Wet beriberi (thiamine/B1 deficiency) |
|
|
Term
| Dog or cat bite resulting in infection |
|
Definition
|
|
Term
| Dry eyes, dry mouth, arthritis |
|
Definition
| Sjogren's syndrome (autoimmune destruction of exocrine glands) |
|
|
Term
| Dysphagia, 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 (Type III collagen defect, may also be associated with berry aneurysm) |
|
|
Term
| Enlarged, hard left supraclavicular node |
|
Definition
| Virchow's node (abdominal metastasis--> late stage, poor prognosis) |
|
|
Term
| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
|
Definition
| Sezary syndroma (cutaneous Tcell lymphoma) or mycosis fungoides |
|
|
Term
| Facial muscle spasm upon tapping |
|
Definition
| Chvostek's sign (hypocalcemia) |
|
|
Term
| Fat, female, forty, fertile |
|
Definition
| Acute cholelithiasis (bile duct blockage)/ porcelain gallbladder |
|
|
Term
| fever, chills, headache, myalgia following antibiotic tx of syphilis |
|
Definition
| Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) |
|
|
Term
| Fever, cough, conjuctivitis, coryza, diffuse rash |
|
Definition
|
|
Term
| Fever, night sweats, weight loss |
|
Definition
B symptoms (lymphoma)
Also seen in TB |
|
|
Term
| Fibrous plaques in soft tissue of the penis |
|
Definition
|
|
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 in Wilson's disease) |
|
|
Term
| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands |
|
Definition
| Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased risk of colon cancer) |
|
|
Term
| Hepatosplenomegaly, osteoporosis, neurologic symptoms, "crinkled tissue paper" cytoplasm |
|
Definition
| Gaucher's disease (glucocerebrosidase deficiency) |
|
|
Term
| hereditary nephritis, sensorineuronal hearing loss, cataracts |
|
Definition
| Alport syndrome (mutation of alpha chain of collagen IV) |
|
|
Term
| Hypercoagulability (leading to migrating DVTs and vasculitis) |
|
Definition
| Trousseau's sign (adenocarcenoma of pancreas of lung) |
|
|
Term
| Hyperphagia, hypersexuality, hyperorality, hyperdocility |
|
Definition
| Kluver-Bucy syndrome (bilateral amygdala lesion) |
|
|
Term
| Hyperreflexia, hypertonia, positive Babinski sign |
|
Definition
|
|
Term
| HTN, hypokalemia, metabolic alkalosis |
|
Definition
| Conn's syndrome (elevated aldosterone) |
|
|
Term
| hyporeflexia, hypotonia, atrophy |
|
Definition
|
|
Term
| Hypoxemia, polycythemia, hypercapnea |
|
Definition
| "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells) |
|
|
Term
| Painful, indurated, ulcerated genital lesion |
|
Definition
| Chancroid (Haemophilus ducreyi) |
|
|
Term
| Painless, indurated, ulcerated genital lesion |
|
Definition
| Chancre (primary syphilis, Treponema pallidum) |
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