Guys ur welcome to add many more stuffs like this....enjoy
SYNDROMES
ENVIRONMENTAL CAUSES
• ACUTE RADIATION SYNDROME: Radiation
exposure.
o 12 hours post-exposure: Vomiting
o 24 hours post-exposure: Prostration (extreme
exhaustion), fever, diarrhea
o Later: Petechial hemorrhage, hypotension,
tachycardia, profuse bloody diarrhea, maybe
death.
• CHINESE RESTAURANT SYNDROME: MSG
reaction ------> Chest Pain, burning sensation over
parts of body.
• BROWN-SEQUARD SYNDROME: Damage
(injury) to half of spinal cord ------> symptoms:
o Loss of pain and temperature sensation on
contralateral side of body.
o Loss of proprioception and discriminatory
touch on ipsilateral side of body.
CARDIOVASCULAR
• ADAMS-STOKES SYNDROME: Heart block, with
slow or absent pulse, often accompanied by
convulsions.
• BARLOW SYNDROME: Floppy Mitral Valve
Syndrome; Massive Mitral Valve Prolapse ------>
Late apical systolic murmur, systolic click, or both.
• EISENMENGER'S SYNDROME: Ventricular-
Septal Defect ------> Pulmonary hypertension and
cyanosis.
• FLOPPY-VALVE SYNDROME: Mitral
Incompetence due to myxomatous degeneration of the
leaflets.
• LERICHE'S SYNDROME: Occlusion of distal
aorta ------>
o Hip, thigh, and calf fatigue.
o Impotence
• BEHCET'S SYNDROME: Vasculitis ------>
secondary symptoms:
o Oral and genital ulcers
o Uveitis
o Optic atrophy
• SHOULDER-HAND SYNDROME: Pain in
shoulder and swelling in hand, sometimes occurring
after Myocardial Infarction.
• SICK SINUS SYNDROME: Chaotic atrial activity;
continual changes in P-Waves. Bradycardia,
alternating with recurrent ectopic beats and runs of
tachycardia.
• SUPERIOR VENA CAVA SYNDROME: Caused
by a tumor. Obstruction of SVC ------>
o Edema
o Engorgement of the vessels of face,
neck, and arms.
o Nonproductive cough
o Dyspnea
• TAKAYASU'S SYNDROME: Arteritis of the
Aortic Arch, resulting in no pulse. Seen in young
women.
• WOLF-PARKINSON WHITE SYNDROME:
ECG pattern of Paroxysmal Tachycardia.
o Short PR
o Delta wave = early QRS complex.
IATROGENIC (or Secondary to Medical Treatment)
• AFFERENT LOOP SYNDROME:
Gastrojejunal loop obstruction, proximal to a
gastrojejunostomy.
o Ingestion of food produces nausea, pain,
and duodenal distension.
• ASHERMAN'S SYNDROME: Adhesions
within the endometrial cavity, causing
amenorrhea and infertility.
o Adhesions probably were caused by
surgery.
• ULYSSES SYNDROME: Ill effects from
follow-up diagnostic tests following a falsepositive
screening test.
NEOPLASTIC (Malignant or Benign)
• CARCINOID SYNDROME: Carcinoid tumor
producing Bradykinin + Serotonin ------>
secondary symptoms:
o Cyanotic flushing
o Diarrhea
o Bronchial spasm
o Edema, ascites.
• CRONKHITE-CANADA SYNDROME: GIPolyps
with diffuse alopecia (hair-loss) and nail
dystrophy.
o May see protein-losing enteropathy and
malabsorption.
• GARDNER'S SYNDROME: Multiple
inherited tumors, hereditary dominant trait.
o Skull osteomas, Fibromas, Epidermoid
cysts
o Colonic polyposis (APC gene) ------>
predisposition to colonic
adenocarcinoma.
• LAMBERT-EATON SYNDROME:
Progressive proximal muscle weakness
secondary to a carcinoma.
• MEIGS' SYNDROME: Fibroma of ovary with
ascites and hydrothorax
• PANCOAST SYNDROME: Tumor near
pulmonary apex ------>
o Neuritic pain of chest and arm
o Muscle atrophy of the arm
o Horner's Syndrome (impaired cervical
sympathetics)
• PEUTZ-JEGHERS SYNDROME: Polyposis
(hamartomas) of small intestine
o Also see melanin pigmentation of buccal
mucosa and skin around mouth and lips
CONGENITAL
• CEREBELLAR SYNDROME: Congenital
Cerebellar Ataxia
• CERVICAL SYNDROME: Supernumerary C7 rib -
-----> Pressure on brachial plexus ------> pain
radiating over shoulder, arm, and forearm over C7
distribution.
• DANDY-WALKER SYNDROME: Obstruction of
Foramina of Magendie and Luschka in infants ------>
Hydrocephalus.
• DIGEORGE SYNDROME: Congenital absence of
3rd and 4th Branchial Arches (Thymus and Parathyroid
Glands) ------> secondary symptoms:
o No cell-mediated immunity ------> Frequent
viral and fungal infections
o Characteristic facial deformities
• DOWN SYNDROME: Trisomy 21. Mental
retardation, characteristic facial features, Simeon
crease in hand.
• FANCONI'S SYNDROME Type I: Bone-marrow
hypoplasia ------> refractory anemia, pancytopenia.
• EHLERS-DANLOS SYNDROME: Congenital
defect in collagen.
o Hyper-elasticity and friability of the skin.
o Hyperextensibility of the joints.
• FETAL ALCOHOL SYNDROME: Fetal
malformations, growth deficiencies, craniofacial
anomalies, limb defects.
• GOODPASTURE'S SYNDROME: Autoantibodies
against basement membranes ------>
Glomerulonephritis (kidney) and hemoptysis (lungs).
o Often, death by renal failure
• KLINEFELTER'S SYNDROME: Trisomy XXY ---
---> testicular atrophy, increase in gonadotropins in
urine.
• KLIPPEL-FEIL SYNDROME:
o Cervical vertebrate fused
o Congenital short neck, limited neck rotation
o Abnormalities of the brainstem and
cerebellum
o Low hairline.
• LESCH-NYHAN SYNDROME: Deficiency of
HGPRT (Hypoxanthine-Guanine Phosphoribosyltransferase
------>
o Hyperuricemia, uric acid kidney stones
o Choreoathetosis
o Mental retardation, autism, spastic
cerebral palsy
o X-Linked recessive
• MARFAN SYNDROME: Connective Tissue
disorder ------>
o Arachnodactyly: Abnormally long
digits and extremities
o Subluxation of lens
o Dissecting aortic aneurism
• POSTRUBELLA SYNDROME: Infantile
defects resulting from maternal Rubella infection
during first trimester.
o Microphthalmos, cataracts
o Deafness
o Mental retardation
o Patent ductus arteriosis, Pulmonary
arterial stenosis
• PRADER-WILLI SYNDROME: Short stature,
mental retardation, polyphagia with marked
obesity, sexual infantilism.
• RENDU-OSLER-WEBER SYNDROME:
Hereditary hemorrhagic telangiectasia.
• SUDDEN INFANT DEATH SYNDROME:
Unexplained death in sleeping infants.
• TURNER'S SYNDROME: XO monosomy.
o Dwarfism
o Webbed neck
o Valgus of elbow.
o Amenorrhea
• WILSON SYNDROME: Congenital defect in
Ceruloplasmin, leading to buildup of copper -----
-> mental retardation, cirrhosis, hepatolenticular
degeneration.
ENDOCRINE, REPRODUCTIVE
• AMENNORRHEA-GALACTORRHEA
SYNDROME: Non-physiologic lactation,
resulting from endocrinologic causes or from a
pituitary disorder.
• CONN'S SYNDROME: Primary
Hyperaldosteronism ------> muscular weakness,
hypertension, hypokalemia, alkalosis.
• CUSHING'S SYNDROME: Hypersecretion of
cortisol ------> secondary symptoms and
characteristics:
o Fatness of face and trunk with wasting
of extremities
o Buffalo hump
o Bone decalacification
o Corticoid diabetes
o Hypertension
• PREMENSTRUAL SYNDROME: Abnormal
sensation in breasts, abdominal pain, thirst,
headache, pelvic congestion, nervous irritability.
o Ocassionally nausea and vomiting.
• SHEEHAN'S SYNDROME: Post-partum pituitary
necrosis ------> hypopituitarism.
• STEIN-LEVENTHAL SYNDROME: Polycystic
ovary ------> infertility, amenorrhea, hirsutism. Seen
in obese women.
• TESTICULAR FEMINIZATION SYNDROME:
Insensitivity to Testosterone. Male
Psuedohermaphroditism
o Complete female external genatalia,
incompletely developed vagina, rudimentary
uterus.
PULMONARY
• KARTAGENER'S SYNDROME: Situs Inversus
(lateral transposition of lungs) resulting from chronic
sinusitis and bronchiectasis.
• HAMMAN-RICH SYNDROME: Interstitial fibrosis
of the lung.
• MIDDLE-LOBE SYNDROME: Chronic
pneumonitis and atalectasis of middle lobe of right
lung.
• CHURG-STRAUSS SYNDROME: Allergic
Granulomatous Angiitis: Asthma, fever, eosinophilia.
INFECTIOUS
• FITZ-HUGH-CURTIS SYNDROME: Gonococcal
Periphepatitis in woman, as a complication of
Gonorrhea.
• GUILLAN-BARRE SYNDROME: Infectious
Polyneuritis of unknown cause.
• HUNT'S SYNDROME: Herpe's Zoster infection of
Facial Nerve (CN VII) and Geniculate Ganglion ------
> facial palsy.
o Zoster of ear
• 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 postchlamydial.
o Urethritis
o Iridocyclitis (Conjunctivitis)
o Arthritis
o Skin lesions like karatoderma
blenorrhagicum
o Also can see fatty liver or liver necrosis.
• SCALDED SKIN SYNDROME: S. Aureus toxic
epidermal necrolysis.
• STEVENS-JOHNSON SYNDROME: Erythema
Multiforme complication.
o Large areas of skin slough, including mouth
and anogenital membranes.
o Mucous membranes: stomatitis, urethritis,
conjunctivitis.
o Headache, fever, malaise.
• TOXIC SHOCK SYNDROME: Caused by
superabsorbent tampons. Infection with Staph
Aureus and subsequent toxicity of exotoxin
TSST ------> systemic anaphylaxis.
o Fever, vomiting, diarrhea
o Red rash followed by desquamation
• WATERHOUSE-FRIEDRICHSON
SYNDROME: Meningeococcal Meningitis ------
> DIC, hemorrhagic infarct of adrenal glands ----
--> fulminant adrenal failure.
o Vomiting, diarrhea.
o Shock
o Extensive purpura, cyanosis, circulatory
collapse.
RENAL
• KEMMELSTIEL-WILSON SYNDROME:
Diabetic Glomerulosclerosis.
• BARTTER'S SYNDROME: Juxtaglomerular
Cell Hyperplasia ------> secondary symptoms:
o Hyperaldosteronism, Hypokalemic
Alkalosis, elevated renin and
angiotensin
o No hypertension.
o Compare to Conn's Syndrome
• FANCONI'S SYNDROME Type II: Renal
aminoaciduria, glycosuria, hypophosphaturia,
cysteine deposition, rickets.
• THORN'S SYNDROME: Salt-losing nephritis.
NEUROLOGICAL
• CARPAL-TUNNEL SYNDROME:
Compression of Median Nerve through the
Carpal Tunnel ------> pain and parasthesia over
distribution of Median N.
• FROIN'S SYNDROME: Block in CSF flow ----
--> xanthochromia (yellow discoloration) of
CSF.
• ACUTE-BRAIN SYNDROME: Delirium,
confusion, disorientation, developing suddenly in
a person that was previously psychologically
normal.
• GERSTMANN'S SYNDROME: Lesion
between occipital area and angular gyrus ------>
symptoms:
o Finger agnosia, Agraphia, acalculia
o Right-left disorientation
• HORNER'S SYNDROME: Loss or lesion of
cervical sympathetic ganglion ------>
o Ptosis, miosis, anhydrosis
o Enophthalmos (caved in eyes)

• KORSAKOFF SYNDROME: Loss of short-term
memory in chronic alcoholism, caused by
degeneration of mamillary bodies.
• RILEY-DAY SYNDROME: Familial dysautonomia.
GASTROINTESTINAL
• MALLORY-WEISS SYNDROME: Laceration of
lower end of esophagus from vomiting ------>
hematemesis. Often seen in alcoholics.
• MALABSORPTION SYNDROME: Impaired
absorption of dietary substance ------> diarrhea,
weakness, weight loss, or symptoms from specific
deficiencies.
• BARRET SYNDROME: Chronic peptic ulcer of the
lower esophagus, resulting in metaplasia of
esophageal columnar epithelium ------> squamous
epithelium.
• ZOLLINGER-ELLISOHN SYNDROME: Gastrinsecreting
tumor in pancreas ------> Severe peptic
ulcers, gastric hyperacidity.
• PLUMMER-VINSON SYNDROME: Esophageal
Webs, leading to dysphagis and atrophy of papillae of
tongue.
o Also see hypochromic anemia,
splenomegaly.
RETICULOENDOTHELIAL, HEMATOLOGIC
• BANTI'S SYNDROME: Chronic Congestive
Splenomegaly with anemia, caused by either Portal
Hypertension or Splenic Vein Thrombosis.
• BUD-CHIARI SYNDROME:
o ACUTE: Hepatic Vein Thrombosis ------>
Massive ascites and dramatic death.
o CHRONIC: Gradual hepatomegaly, portal
hypertension, nausea, vomiting, edema,
ulimately death.
• DUBIN-JOHNSON SYNDROME: Defect in
excretion of conjugated bilirubin ------> recurrent
mild jaundice. Buildup of direct builirubin in blood.
• CHIDIAK-HIGASHI SYNDROME: Abnormalities
in leukocytes with large inclusions.
• CRUVEILHIER-BAUMGARTEN SYNDROME:
Symptoms cluster:
o Liver cirrhosis
o Caput Medussae
o Venous hum and thrill
• FELTY'S SYNDROME: Rheumatoid Arthritis with
splenomegaly, leukopenia, anemia, and
thrombocytopenia.
• LOFFLER'S SYNDROME: Eosinophilia with
transient infiltrates in lungs.
UNCATEGORIZED
• YELLOW-NAIL SYNDROME: Stop growth
of nails ------> increased convexity, thickening,
and yellowing of nails.
o Found in Lymphedema, bronchitis,
chronic bronchiectasis.
• COSTOCHONDRAL SYNDROME: Pain in
chest with tenderness over one or more
costochondral junctions.
o Similar to Tietze's Syndrome but no
specific inflammation.
• TIETZE'S SYNDROME: Costochondritis.
Swelling and tenderness of the costal cartilege.
• MIKULICZ'S SYNDROME: Salivary and
lacrimal enlargement as seen in several diseases:
o Sarcoidosis
o Tuberculosis
o Leukemia
• MUNCHAUSEN SYNDROME: Malingering -
- fabrication of a clinically convincing disease by
an itinerant malingerer.
• PICKWICKIAN SYNDROME: Symptom
cluster
o Obesity
o Hypoventilation
o Somnolence
o Erythrocytosis
• RESTLESS LEGS SYNDROME: Need to
stretch legs at night before going to sleep; twitch
in legs causing insomnia.
• STRAIGHT BACK SYNDROME: Loss of
normal kyphosis of thoracic spine ------>
o Straight spine
o Ejection murmur
o Widened cardiac silouhette on x-ray
• SJÖGREN'S SYNDROME: Autoimmune
complex
o Keratoconjuctivitis Sicca (dry eyes and
mouth)
o Dryness of Mucous membranes
o Telangiectasias in face
o Parotid enlargement

This syndrome is a complication with a prosthesis after an amputation...

If an amputee continues to wear a malfitting prosthesis, edematous portions of the skin of the distal part of the stump may become pinched and strangulated within the socket, and this may cause ulceration or gangrene as a result of the impaired blood supply. The pigmentary changes so often seen on the distal portion of the stump of amputees is due to hemosiderin or blood pigment deposited within the distal stump skin. It is thought that this disorder is vascular in origin, a venous and lymphatic congestion producing edema and hemorrhage. Superficial erosion of the distal stump skin is not uncommon, and in rare instances deep ulcers can result from continued mechanical injury and poor skin nutrition. Here, therapy by the dermatologist requires teamwork with the orthopaedic surgeon and prosthetist. This includes elimination of all mechanical factors contributing to the edema, such as choking by the socket or lack of total contact distally.

• Condition commonly caused by proximal constriction

Characterized by

• edema
• pain
• blood in the skin
• increased pigmentation

The syndrome usually responds to temporary removal of the prosthesis, elevation of the residual limb, and compression.

__________________
for reading!

@a4assassins...don't think you need to hide that kind of content...you only need to hide the links...thanks!

Meckel-Gruber syndrome is a congenital, lethal autosomal recessive disorder characterized by anomalies of the central nervous system resulting in mental retardation, cystic dysplasia of the kidneys, and malformations of the hands and feet. Some children with MKS may also demonstrate cleft palate, ductal plate malformation of the liver, cardiac abnormalities, and incomplete development of external or internal genitalia. Patients with MKS invariably die from it, primarily of lung and renal failure.

MeckelGruber syndrome is characterized by typical sonographic findings, including occipital encephalocele, postaxial polydactyly, and cystic kidneys. The sonographic characteristics depend on gestational age. The classic triad was solely seen in cases diagnosed before the 14th week of gestation. Later in the pregnancy, severe oligohydramnion makes it more difficult to establish the diagnosis by ultrasound alone.

__________________
for reading!

Bardet-Biedl syndrome:

Involves genes BBS2, BBS4, BBS6; loci at 11q13, 3p13, 2q31; Autosomal Recessive or possible triallelic inheritance

Features:

• Persistent fetal lobulation
• Small kidneys with clubbed calyces
• Cystic dysplasia
• Congenital hepatic fibrosis
• Retinal degeneration
• Obesity
• Polydactyly and other limb deformities,
• Hypogenitalism

Renal disease may require dialysis and transplantation during adolescence and early adulthood

__________________
for reading!

thank u very interesting collection
have u been working on this ur self?

and thanx bladder for the adds

Cri du chat syndrome

Cri du chat is the result of a chromosome abnormality— a deleted piece of chromosomal material on chromosome 5.
An abnormal larynx causes the unusual cat-like cry
Individuals with this syndrome have unusual facial features, poor muscle tone(hypotonia), small head size (microcephaly), and mental retardation. Infants with cri du chat may have congenital heart defects.

Sturge-Weber Syndrome

Sturge-Weber syndrome is a rare condition that affects the skin and the brain. It is caused by a spontaneous genetic mutation.
The Sturge-Weber syndrome, also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas involving the leptomeninges and skin of the face, typically in the ophthalmic and maxillary distributions of the trigeminal nerve.
Clinical
*port-wine stains of the face
* Macrocephaly
* Eye - Buphthalmos, heterochromia of iris, tomato-catsup color of the fundus (ipsilateral to the nevus flammeus) with glaucoma, possibility of choroidal angioma visible with an ophthalmoscope
* Soft-tissue hypertrophy
* Neurologic signs
- Developmental delay/mental retardation
- Learning problems
- Attention deficit hyperactivity disorder
- Hemiparesis
- Visual loss
- Hemianopsia
- Seizures

Behcet syndrome -

classically characterized as a triad of symptoms:

• recurring oral ulcerations (apthous ulcers)
• recurring genital ulcers
• uveitis

You can also have:

• arthritis
• dermatitis
• erythema nodosum
• thrombophlebitis
• cerebral involvement

more often in men than in women

...i also read that it can cause the aortic root to dilate --> causing aortic regurgitation

__________________
for reading!

Is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.

Caused by an absence of dystrophin, a protein that helps keep muscle cells intact.

Onset - Early childhood - about 2 to 6 years.
Clinical
o Weakness
+ Distribution
# Proximal > Distal
# Symmetric
# Legs & Arms
# Most involved muscles: Adductor magnus in legs
# Relatively spared muscles: Gracilis & Sartorius
+ Course
# Reduced motor function by 2 to 3 years
# Steady decline in strength: After 6 to 11 years
+ Gowers sign: Standing up with the aid of hands pushing on knees
+ Failure to walk: 9 - 13 years; Later with steroid treatment
o Muscle hypertrophy
+ Especially calf
+ May be generalized
+ Increases with age
+ Most commonly due to muscle fibrosis
+ Some relatively spared muscles may have true hypertrophy
o Musculoskeletal
+ Contractures
# Especially ankles; Also hips & knees
# Treatment
* Non-surgical
o Night splints on ankles: More effective than passive stretch3
* Surgical
o Contracture release of ankles, knees or hips
o Early ambulation after surgery
+ Scoliosis
# Onset: After loss of ambulation
# May be reduced if walking & standing is prolonged to 17 to 18 years
# Treatment: Surgical insertion of spinal rod
o Other clinical features
+ Cardiomyopathy: Dilated; Especially > 15 years
+ Mental retardation: Mean IQ ~ 88
+ Night blindness
# Altered response to flashes of light in dark adapted state
# ERG: b-wave, Reduced amplitude
# Dp260: Isoform of dystrophin in retina
+ Gastrointestinal: Rare
# Type: Pseudo-obstruction; Gastric dilatation
# Upper GI tract
# Late in disease course
o Death
+ Most common between 15 - 25 years
+ Due to respiratory or cardiac failure
+ Life prolonged by ~ 6 years to 25 years with respiratory support8
+ Life shortened by 2 years with cardiomyopathy
* Laboratory
o Serum
+ CK: Very high
+ Troponin I: Elevated above normal but not to levels in cardiac ischemia
+ Liver enzymes: High AST & ALT
o Muscle biopsy
+ Endomysial fibrosis
+ Variable fiber size: Small fibers rounded
Dystrophic muscle (Erb)
Dystrophic
muscle (Erb)
+ Hypercontracted (opaque) muscle fbers
+ Myopathic grouping
+ Muscle fiber degeneration & regeneration
+ Muscle fiber internal archetecture: Normal or immature
+ Dystrophin: Absent staining
+ Other membrane proteins
# Sarcoglycans: Reduced
# Aquaporin 4: Reduced; Varied levels
o Diagnostic testing
+ Muscle: Staining for dystrophin protein absent
+ Genetic: Deletion, Duplication, Small mutation, Point mutation10
* Drug treatment: Prolongs ability to walk by 2 to 3 years
o Prednisone
+ Doses
# Weekly: 5 to 10 mg/kg/week starting dose6
* 2.5 to 5 mg/kg/day on Friday & Saturday
* Side effects: Fewer than daily prednisone
o Weight gain: Some patients; Less than daily prednisone
o Cushingoid features: Mild
o Irritability: On day of dose
o Growth: Not prominently impaired; More growth than with daily prednisone
# Daily: 0.75 mg/kg/day starting dose; Less optimal than weekly regimen
+ Effects of treatment
# Walking: Prolonged by 2 to 5 years
# Strength: Increased
# Falling: Reduced
# Scoliosis: May prolong walking long enough to reduce likelihood or severity
o Deflazacort: 0.9 to 1.2 mg/kg/day starting dose
o Oxandrolone: 0.1 mg/kg/day