Abdominal Pain, Ascites, Hepatomegaly
Budd-Chiari Syndrome (Post hepatic venous thrombosis)
Achilles Tendon Xanthoma
Familial Hypercholesterolemia (Decreased LDL Receptor Signaling)
Adrenal Hemorrhage, Hypotension, DIC
Waterhouse-Friderichsen Syndrome (meningococciemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s Syndrome (fibrillin defect)
Autosomal Dominant
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott’s Disease
vertebral tuberculosis
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue Sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s Line (Lead poisoning)
Bone Pain, Bone enlargement, arthritis
Paget’s disease of bone (Increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic Regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
Systemic Lupus Erythematosus
Café-au-lait spots, lisch nodules (iris harmartomas)
NF-1 (+pheochromocytoma, optic gliomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf-Pseudohypertrophy
Muscular Dystrophy (most common Duschenne’s): X-linked recessive deletion of dystrophin gene
“Cherry-Red” spot on Macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion)
Chest Pain, pericardial effusion/friction rub. persistent fever following MI
Dressler’s Syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower’s sign (Duchenne Muscular Dystrophy)
Child with fever later develops red rash on face that spreads to body
“Slapped Cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington’s Disease (autosomal-dominant CAG repeat expansion)
Chronic Exercise intolerance with myalgia, fatigue, painful cramps myoglobinuria
McArdle’s Disease (muscle glycogen phosphorylase deficiency)
Cold Intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [Stroke])
Continuous “Machine-like” heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves’ disease [pretibial])
Dark Purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS patients. Associated with HHV-8)
Deep, Labored breathing/hyperventilation
Kussmaul Breathing (DKA)
Dermatitis, dementia, death
Pellagra (niacin [Vit B3] deficiency)
Dilated Cardiomyopathy, edema, alcoholism or malnutrition
Wet Beriberi (Thiamine [Vit B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eye, dry mouth, arthritis
Sjögren’s syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic Skin, hypermobility of joins
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged hard left supraclavicular node
Virchow’s node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sézary syndrome (cutaneous T-cell lymphoma) or Mycosis fungoides
Facial Muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, Female, Forty, Fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer Reaction (Rapid lysis of spirchetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie’s Disease (connective tissue disorder)
Gout, mental retardation, self-mutilation behavior in boys
Lesch-Nyhan syndrome (HGPRT deficiency)
X-linked Recessive
Green-Yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from wilson’s disease)
Hamartomatous GI Polyps, hyperpigmentation of mouth, hands and feet
Peutz-jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha-chain of collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, babinski sign present
UMN lesion
Hypotonia, hyporeflexia, atrophy, fasciculations
LMN Lesion
Hypoxemia, polycythemia, hypercapnia
“Blue Bloater” (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema Pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive and hepatomegaly
Cori’s Disease (debranching enzyme deficiency)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward’s syndrome (trisomy 18)
Juandice, palpable distended non-tender gallbladder
Courvoisier’s Sign (distal obstruction of the biliary tree)
Large rash with a bullseye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme Disease)
Lucid interval following traumatic brain injury
Epidural Hematoma (middle meningeal artery)
Male child, recurrent infections, no mature B cells
Bruton’s Disease (X-linked agammaglobulinemia
Mucosal bleeding and prolonged bleeding time
Glanzmann’s Thrombastenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner’s Syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe’s disease (lyososmal a-1,4-glucosidase deficiency)
Neonate with are paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)
No lactation postpardum, absent menstration, cold intolerance
Sheehan’s syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
Oscillating slow/fast breathing
Cheyne-stokes respirations (central apnea in CHF or increased intracranial pressure)
Painful blue finger/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious monucleoisis)
Painful, pale, cold fingers/toes
Raynaud’s phenomenon (vasospasm in extremities)
Painful, raised red lesions on pads of fingers/toes
Osler’s node (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infectious endocarditis, septic emboli/microabscesses)
Painless jaundice
Carcer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN1 (autosomal dominant)
Periorbital and/or periperal edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“pink puffer” (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Falconi’s syndrome (proximal tubular reabsorption defect)
Positive anterior drawer sign
ACL injury
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
ptosis, miosis, anhidrosis
Horner’s syndrome (sympathetic chain lesion)
Pupil accommodates but does not react
Argyll Robertson pupil (neurosyphillis)
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job’s syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stool
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/areola
Paget’s disease of the breast (represent underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability
Parkinson’s disease (nigrostriatal dopamine depletion)
Retinal hemorrhages with pale centers
Roth’s spots (bacterial endocarditis)
Severe jaundice in neonates
Crigler-Nijjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing’s sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBerney’s Sign (appendicitis)
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi’s anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Single palmar crease
Simian crease (down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and increased a-MSH production)
Slow, progressive muscle weakness in boys
Becker’s muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne’s)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles); rubeola virus)
Smooth, flat, moist, painless white lesions on genitals
condylomata lata (secondary syphilis)
splinter hemorrhages in fingernails
bacterial endocarditis
“strawberry tongue”
Scarlet fever, kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner Syndrome (45, XO)
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vit C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
