Term
| Severe jaundice in neonate |
|
Definition
| Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) |
|
|
Term
| Severe RLQ pain with rebound tenderness |
|
Definition
| McBurney's sign (appendicitis) |
|
|
Term
Short stature
Increased incidence of tumors/leukemia
Aplastic anemia |
|
Definition
| Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
|
|
Term
|
Definition
| Simian crease (Down syndrome) |
|
|
Term
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility |
|
Definition
| Kartagener's syndrome (dynein arm defect affecting cilia) |
|
|
Term
|
Definition
| Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production) |
|
|
Term
| Slow, progressive muscle weakness in boys |
|
Definition
| Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's) |
|
|
Term
| Small, irregular red spots on buccal/lingual mucosa with blue-white centers |
|
Definition
| Koplik spots (measles; rubeola virus) |
|
|
Term
| Smooth, flat, moist white lesions on genitals |
|
Definition
| Condylomata lata (secondary syphilis) |
|
|
Term
| Splinter hemorrhages in fingernails |
|
Definition
|
|
Term
|
Definition
Scarlet fever
Kawasaki disease
Toxic shock syndrome |
|
|
Term
Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth |
|
Definition
| Turner syndrome (45XO, short stature, webbed neck, lymphedema) |
|
|
Term
Sudden swollen/painful big toe joint
Tophi |
|
Definition
| Gout/podagra (hyperuricemia) |
|
|
Term
Swollen gums
Mucous bleeding
Poor wound healing
Spots on skin |
|
Definition
| Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis) |
|
|
Term
| Swollen, hard, painful finger joints |
|
Definition
| Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heverden's nodes]) |
|
|
Term
| Systolic ejection murmur (cresendo-decrescendo) |
|
Definition
|
|
Term
Thyroid and parathyroid tumors
Pheochromocytoma |
|
Definition
| MEN 2A (autosomal dominant ret mutation) |
|
|
Term
Thyroid tumors
Pheochromocytoma
Ganglioneuromatosis |
|
Definition
| MEN 2B (autosomal dominant ret mutation) |
|
|
Term
| Toe extension/fanning upon plantar scrape |
|
Definition
| Babinski sign (UMN lesion) |
|
|
Term
| Unilateral facial drooping involving forehead |
|
Definition
| Bell's palsy (LMN CN VII palsy) |
|
|
Term
Urethritis
Conjunctivitis
Arthritis
In a male |
|
Definition
| Reactive arthritis associated with HLA-B27 |
|
|
Term
| Vascular virthmark (port-wine stain) |
|
Definition
| Hemangioma (benign, but associated with Sturge-Weber syndrome) |
|
|
Term
| Vomiting blood following esophagogastric lacerations |
|
Definition
| Mallory-Weiss syndrome (alcoholic and bulimic patients) |
|
|
Term
| "Waxy" casts with very low urine flow |
|
Definition
| Chronic end-stage renal disease |
|
|
Term
|
Definition
|
|
Term
Weight loss
Diarrhea
Arthritis
Fever
Adenopathy |
|
Definition
| Whipple's disease (Tropheryma whippelii) |
|
|
Term
| "Worst headache of my life" |
|
Definition
|
|
