Common Syndromes

DOWN SYNDROME:
Trisomy 21. Mental retardation, characteristic facial features, Simeon crease in hand.

MARFAN SYNDROME: Connective Tissue disorder
* Arachnodactyly: Abnormally long digits and extremities
* Subluxation of lens
* Dissecting aortic aneurism

SUDDEN INFANT DEATH SYNDROME: Unexplained death in sleeping infants.

TURNER'S SYNDROME: XO monosomy.
* Dwarfism
* Webbed neck
* Valgus of elbow.
* Amenorrhea

WILSON SYNDROME: Congenital defect in Ceruloplasmin, leading to buildup of copper mental retardation, cirrhosis, hepatolenticular degeneration.

AMENNORRHEA-GALACTORRHEA SYNDROME: Non-physiologic lactation, resulting from endocrinologic causes or from a pituitary disorder.

CUSHING'S SYNDROME: Hypersecretion of cortisol secondary symptoms and characteristics:
* Fatness of face and trunk with wasting of extremities
* Buffalo hump
* Bone decalacification
* Corticoid diabetes
* Hypertension

PREMENSTRUAL SYNDROME: Abnormal sensation in breasts, abdominal pain, thirst, headache, pelvic congestion, nervous irritability.
Ocassionally nausea and vomiting.

GUILLAN-BARRE SYNDROME: Infectious Polyneuritis of unknown cause.

REYE'S SYNDROME: Loss of consciousness and seizures in kids, after a viral infection treated by aspirin.

REITER'S SYNDROME: Symptom cluster. Etiology is thought to be Chlamydial or post-chlamydial.
Urethritis
Iridocyclitis (Conjunctivitis)
Arthritis
Skin lesions like karatoderma blenorrhagicum
Also can see fatty liver or liver necrosis.

STEVENS-JOHNSON SYNDROME: Erythema Multiforme complication.
Large areas of skin slough, including mouth and anogenital membranes.
Mucous membranes: stomatitis, urethritis, conjunctivitis.
Headache, fever, malaise.

TOXIC SHOCK SYNDROME: Caused by superabsorbent tampons. Infection with Staph Aureus and subsequent toxicity of exotoxin TSST systemic anaphylaxis.
* Fever, vomiting, diarrhea
* Red rash followed by desquamation

CARPAL-TUNNEL SYNDROME: Compression of Median Nerve through the Carpal Tunnel - pain and parasthesia over distribution of Median N.

HORNER'S SYNDROME: Loss or lesion of cervical sympathetic ganglion -
* Ptosis, miosis, anhydrosis
* Enophthalmos (caved in eyes)

KORSAKOFF SYNDROME: Loss of short-term memory in chronic alcoholism, caused by degeneration of mamillary bodies.

MALABSORPTION SYNDROME: Impaired absorption of dietary substance - diarrhea, weakness, weight loss, or symptoms from specific deficiencies.

RESTLESS LEGS SYNDROME: Need to stretch legs at night before going to sleep; twitch in legs causing insomnia.