In systemic lupus erythematosus (SLE), ulnar deviation of the fingers, swan neck deformities, and subluxations, initially reversible since not joint problem per se but can become fixed over time.
In simple partial seizures, clonic movements of a single muscle group spreading to involve contiguous regions of the motor cortex.
Craniosynostoses as well as limb defects, broad great toes. Due to mutations in FGFR2.
Congenital condition from deletion in 11q (especially FLI1 gene), characterized by learning disabilities, heart defects, and thrombocytopenia; see also Paris-Trousseau syndrome.
Early sign of pregnancy characterized by purplish coloration of vagina.
Circumscribed hamartoma involving skin with a preponderance of sebaceous glands. Usually seen at birth or in early childhood. Described by Jadassohn in 1895.
Poisoning from hypoglycin A in unripe ackee fruit. Hypoglycin A is potent hypoglycemic agent that decreases rate of fatty-acid beta oxidation probably by inhibition of acyl dehydrogenase flavin-dependent oxidation. Causes liver damage indistinguishable from Reye's syndrome.
Tracts of atrial tissue running from the atria and inserting into the low AV node; functional significance not well established, controversial if associated with abnormal AV conduction.
In infective endocarditis, nonpainful, small, erythematous or hemorrhagic macules or nodules of palms or soles. More common in acute bacterial endocarditis, but may occur in subacute bacterial endocarditis.
An autosomal dominant form of dwarfism resulting from an activating mutation in the parathyroid hormone receptor, premature ossification from acceleration of the transition from proliferative to hypertrophic chondrocytes.
Late infantile neuronal ceroid lipofuscinosis, CLN2 disorder generally characterized by visual loss, epilepsy, and psychomotor deterioration. Due to mutation in TPP1 gene.
Sudden fevers, rigors, and persistent hypotension following antimicrobial treatment of louse-borne relapsing fever (spirochete Borrelia recurrentis infection) or syphilis; treatment with anti-TNF-alpha Fab before penicillin suppresses this reaction (NEJM 335:311).
For treating transposition of great vessels, pulmonary artery and aorta are transected above valves and switched, and coronary arteries are moved from old aortic root to new aorta (former pulmonary root).
Fracture of C1 at more than one site; rarely associated with neurological deficits because of size of spinal canal at this level.
For increasing sensitivity of deep tendon reflexes, have patient clasp hands together or grab wrists tightly while checking reflexes. Described by Hungarian physician Erno Jendrassik (1858-1921).
Psychosis affecting visitors to Jerusalem whereby afflicted develop psychotic religious delusions; affects a handful of visitors each year.
Long QT syndrome with congenital deafness, autosomal recessive.
Hyperimmunoglobulin E syndrome. Immune deficiency where neutrophils fail to respond to chemotactic stimuli, associated with high levels of IgE; patients susceptible to cold staphylococcal abscesses. Associated with mutation in STAT3 in autosomal dominant version.
Thyroid hyperfunction induced by excess iodine ingestion in patients with various thyroid disorders; "jod" is German for iodine; K. A. Von Basedow.
In thyrotoxicosis, absence of forehead wrinkling with upward gaze and head tilted down, in setting of exophthalmos. Also, disorder of the arithmetic faculty in the early stages of organic brain disease.
Syndrome of nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness; due to defect in UBR1 gene.
Positive sign when penis inclined to side of the disorder radiographically (e.g., fractured hip); 70% sens 67% specific for John Thomas sign in hip fracture, Med J. Aust. 1998;169:670. Also known as Throckmorton sign.
Autosomal dominant neuroectodermal syndrome characterized by anosmia, hypogonadotropic hypogonadism associated with conductive deafness, alopecia, congenital heart defects.
In myasthenia gravis, a sequence of repetitive nerve stimulation (RNS) studies specifically designed to look for neuromuscular junction disease. A positive test is a >10% decremental response with 3 Hz repetitive stimulation, 50-80% sensitive. After Friedrich Jolly, German neurologist, 1844-1904.
For diagnosing rheumatic fever, major criteria: carditis, polyarthritis, chorea, erythema marginatum, and subcutaneous nodules. minor criteria: arthralgia, fever, elevated ESR, CRP, prolonged PR. In setting of antecedent group A streptococcal infection, two major or one major and 2 minor suggests RF. Throat cultures negative by the time rheumatic fever appears. Described by Jones in 1944.
Fracture at the base of the fifth metatarsal diaphysis.
Autosomal recessive disorder consisting of cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. On brain imaging, see "molar tooth" sign.
Unusually extreme startle reaction that occurs in selected populations with reactions including echolalia, echopraxia; first described in French Canadian lumberjacks in the Moosehead Lake Region of Maine in the late 19th century; also described as latah in Malaysia.
Eponyms 
Ingrown toenail
Nematocysts
Cryptitis
Vascular ring
Vesiculobullous rashes
Black hairy tongue
Abscess