1
SYNDROME CHARACTERISTIC
features
small bridge to Autosomal Dominant
GENETICS Examples: Huntington’s
disease, Neurofibromatosis,
Polycystic Kidney disease,
Achondroplasia
Autosomal recessive
Examples: Cystic fibrosis, Tay
Sach’s disease, Ehlers-Danlos
syndrome, Gauchers disease,
Sickle Cell disease, Alport
syndrome, Phenylketonuria,
Familial Mediterranean fever,
Osteogenesis imperfect,
Hemochromatosis
Sex linked Dominant
Examples: Xga blood group
system, vitamin D-resistant
rickets (hypophosphatemia)
Sex linked Recessive
Examples: Hemophilia A,
Hemophilia B, Duchenne
muscular dystrophy, X-linked
SCID and glucose-6-
phosphate dehydrogenase
deficienc y (G6PD)
Addison’s syndrome Hyperpigmentation (due to
loss of negative feedback to
the MSH)
Hypotension
W eakness
DISEASE/CONDITION/
other things to remember
A pattern of inheritance in which an
affected individual has one copy of
a mutant gene and one normal gene on
a pair of autosomal chromosomes
in individuals who have received two
copies of an autosomal gene, one copy
from each parent; gene is on an
autosome, a nonsex chromosome
parents are carriers who have only one
copy of the gene and do not exhibit the
traitif both parents are carriers, there is
a 25% chance of a child inheriting both
abnormal genes and, consequently,
developing the disease
50% chance of a child inheriting only one
abnormal gene and of being a carrier,
like the parents, and there is a 25%
chance of the child inheriting both normal
genes
*transmitted to both males and females,
both of whom can be affected
*no carrier state exists; all persons with
the gene express the trait
*males transmit the trait to all daughters
but never to sons
*females transmit the trait to 50% of their
offspring, regardless of sex
typically occur only in males invariably
X-linked
males transmit the trait only to their
daughters, all of whom become carriers
Carrier (heterozygous) females can then
transmit the trait to 50% of their male
and female offspring
Affected males are hemizygous for the
X-linked trait
 Destruction of about 90% of the
adrenal cortex (not medulla) 
↓glucocorticoids,
↓steroid hormones,
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Hyponatremia ↓mineralocorticoids
Hyperkalemia  Primary may be due to
autoimmune adrenalitis or
congenital adrenal hypoplasia
 Secondary may be due to
Infections: TB , Metastatic Ca,
 lack of ACTH is usually due to
prolonged use of
exogenous steroids
 Cosyntropin stimulation test: 1 or
250µg IM/IV (Normal: >20µg/dL)
 Tx: HYDROCORTISONE -
DO C

Afferent loop syndrome  Ill-defined mass in the  Entrapment or compression of

RUQ the afferent loop by post-
 Localized mid- operative adhesions
epigastric, or  Obstruction of the afferent loop
RUQ/LUQ abdominal after a Billroth II
tenderness gastrojejunostom y
 Rigid abdomen
 Bezoars at the afferent limb or
 Jaundice
at the anastomosis
 Signs of pancreatitis

Ahumada del Castillo Amenorrhea + galactorrhea Hyperprolactinemia

syndrome not secondary to pregnancy (prolactinoma)
Phenothiazines
Haloperidol

Aicardi syndrome Agenesis of Corpus Callosum Usually female

MR, seizures
Retinal lacunae
Coloboma of the optic disc

Alport syndrome  Glomerulonephritis to  Mutations in the collagen gene

(a genetic disease) End stage renal COL4A5 that encodes for the α-
disease 5 chain of collagen type IV
 Sensorineural located on chromosome X (thus,
Hearing loss males having only one X
 Lenticonus chromosome, are severely
 Hematuria – common affected than females)
to all AS px  The abnormal collagen disrupts
the barriers in the kidney
basement membrane causing a
“KIDNEY + EARS + “basket weave” appearance
Lenticonus”= Alport’s  The abnormal collagen in the
cochlea deafness; ability to
hear high tones is lost first
 The abnormal collagen affects
the lens of the eye

 MC hereditary nephritis

Angelman syndrome Sleep disturbance Happy puppet syndrome

Learning disability Chromosome 15 long arm (15q)
Seizure Maternal sequence is deleted
Jerk y movements (hand- Paternal sequence is normal
flapping)
Frequent laughter or smiling The most common genetic defect
“Unusually happy leading to Angelman syndrome is an
demeanor” ~4Mb (mega base) maternal deletion
in chromosomal region 15q11-13
causing an absence of UBE3A
expression in the paternally imprinted

Asherman syndrome  endometrial
synechiae or
fibrosis due to polyps
 amenorrhea
 infertility
Barlow syndrome Mid s ystolic click
Bartter’s syndrome Hypokalemia
Alkalosis
Normal to low BP
Elevated renin
Elevated aldosterone
Behcet’s syndrome  Oral and genital
ulcers
 Uveitis (HLA B27)
 Progressive optic
atrophy
 Intracranial
hypertension with
papilledema
Blind loop s yndrome Bacterial overgrowth in the
intestine caused by stasis
Boerhaave s yndrome  Pressure rupture of
the left postero-lateral
lower 1/3 of the
esophagus
 Retrosternal chest and
upper abdominal pain
Brown Sequard  Contralateral loss of
syndrome pain and temperature
 Ipsilateral loss of
propioception and
touch
Brugada s yndrome Sudden cardiac death
Or sudden unexplained death
syndrome
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brain regions.
UBE3A codes for an E6-AP ubiquitin ligase,
which chooses its substrates very selectively,
and the four identified E6-AP substrates have
shed little light on the possible molecular
mechanisms underlying Angelman syndrome
in humans.
Post D & C
(trauma to the basal layer)
Floppy mitral valve
Marfan’s syndrome:
MC cause of death is the dissecting
aortic aneurysm due to cystic
medial necrosis
 Inherited defect in the Thick
Ascending Loop of Henle
Juxtaglomerular cells hyperplasia
 Auto-inflammation of the blood
vessels: VASCULITIS
 Patient may present with a
stroke
 HLA B51
 (+) history of alcoholism, and
gastroduodenal ulcer
 Usually iatrogenic
(instrumentation)
 (+) Hamman’s sign: a
crunching, rasping sound,
synchronous with the heartbeat;
heart is beating against air-filled
tissues
Hemisection of the spinal cord
Spinal cord lesion
a genetic disease that is characterized
by abnormal electrocardiogram (ECG)
findings that point to ventricular
fibrillation
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RBBB
ST elevation in V1 to V3

Budd-Chiari s yndrome  Abdominal Hepatic vein thrombosis

enlargement (occlusion of IVC or hepatic veins)
 Ascites centrilobular congestion and
 Abdominal and back necrosis
veins Associated with hypercoagulable state,
 Absence of JVD polycythemia vera, pregnancy, HCC

Treatment: Portos ystemic Shunt

Capgras s yndrome Patient holds a delusion that a A delusional misidentification syndrome

friend, spouse, parent or other
close family member has been Associated with schizophrenia, brain
replaced by an identical injury and dementia
looking impostor

Caplan’s syndrome Sero(+) rheumatoid arthritis Homogenous intrapulmonary nodules

associated with seen on chest Xray
pneumoconiosis (related to
mining dust: coal, asbestos,
silica)

Carcinoid s yndrome Cyanotic flushing Caused by a carcinoid tumor of the

Diarrhea enterochromaffin
(a.k.a Thorson Bioerck Right-sided heart (Kultschizsky) cells
syndrome) failure MC site: Appendix
Endogenous secretion of serotonin and
Bronchoconstriction / kallikrein (converted to bradykinin)
Bronchospasm
5HIAA urine test
(5-hydrox yindoleacetic acid)

Cavernous sinus  Ophthalmoplegia Large collection of thin-walled veins

syndrome  Chemosis creating a cavity bordered by the
 Proptosis temporal bone of the skull and the
 Horner syndrome sphenoid bone
 Trigeminal sensory  Cavernous sinus thrombosis
loss  Tolossa-Hunt syndrome
 Aspergillosis
 Rhinocerebral mucorm ycosis
 Tumors
 Aneurysms of the internal carotid
artery

Charcot’s triad Right upper quadrant pain Acute cholangitis; may be due to:
Jaundice  Gallstones
Fever  Bacterial infection (E.coli,
Klebsiella, Enterobacter)
 Parasitic (Ascaris lumbricoides,
Clonorchis sinensis)
 Stricture of the bile duct from
unknown cause

CHARGE syndrome Coloboma of the eye One of the common life-threatening

Heart anomaly congenital anomalies
Choanal Atresia
Retardation
Genital anomaly

Ear anomaly
Cherry red diaper Cherry red colonies
syndrome UT I
Chinese restaurant  Numbness at the back
syndrome of the neck, radiating
to arms and legs
 Palpitations
 general weakness
 Chest pain
 Burning sensation
Churg Strauss Stages
syndrome 1: Allergies (sinuses)
2: Severe asthma
3: Nerve pains in the arms,
legs, hands
Purple marks on skin
Oral and nasal sores
Multi-organ involvement
Compartment syndrome Pain out of proportion on
examination
Paresthesia
Pallor
Pressure
Pulselessness – late sign
Paralysis – late sign
Conn’s syndrome Arterial hypertension
Hypernatremia
Hypokalemia
Metabolic alkalosis
Low/normal renin
CREST syndrome The limited cutaneous form
(lcSSc) of
Systemic Scleroderma
Crigler Najjar syndrome  Unconjugated
Type I hyperbilirubinemia
 Inherited non-
hemolytic jaundice
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Serratia marcescens
Monosodium glutamate symptom
complex
Patients do not have previous history of
allergies and asthma
Becomes more severe as disease
progresses and affects more organs
(+) p-ANCA autoantibodies
a limb threatening and life threatening
condition which occurs after an injury,
when there is not a sufficient amount of
blood to supply the muscles and nerves
with oxygen and nutrients because of the
raised pressure within the
compartment such as the arm, leg or any
enclosed space within the body and
leads to nerve damage because of
the lack of blood supply
 Primary hyperaldosteronism
 Due to a solitary aldosterone-
secreting adrenal adenoma
CREST Syndrome (the acronym)
 Calcinosis
 Raynaud’s phenomenon
 Esophageal dysmotility
(Scleroderma)
 Sclerodactyly
 Telangiectasia
If lungs are involved: pulmonary arterial
hypertension
Anti-CENTROMERE
and Anti-NUCLEAR
Antibodies
No detectable UDP-GT1A1;
no response to treatment with
Phenobarbital
(NOTE: in reality, Phenobarbital is hardly
used; it puts the baby to sleep

(NOTE: mothers have 5-  Kernicterus
ß-pregnane, 3-20-ßdiol  Brain damage in
which inhibits the infants
enzyme Glucuronyl
transferase 
breastfeeding jaundice)
Crigler Najjar syndrome Kernicterus is rare
Type II
(a.k.a. Arias syndrome)
Cruveilhier Baumgarten  Abdominal wall
syndrome bruit
 Palpable thrill
 Esophageal varices
(caput medusae)
 Venous hum
Cushing’s syndrome Buffalo hump
Moon facie
Hypertension
Abdominal striae
Proximal extremities wasting
Bone resorption
osteoporosis
Diabetes  due to
cortisol-induced
gluconeogenesis
(NOTE: Cushing’s disease is
usually caused by a basophilic
adenoma in the pituitary
gland hypercorticolism will
not be suppressed by
Dexamethasone Test)
Dandy W alker  Enlargement of the
syndrome fourth ventricle
 Hydrocephalus
Diamond-Blackfan Pure red cell aplasia
syndrome
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respiratory depression ↑CO2
retention aggravates cerebral edema
a serum bilirubin usually above
345µmol/L (310–755)
(whereas the reference range for total
bilirubin is 2–14 μmol/L)
T x:
 Exchange transfusions
 12h/day phototherapy
 Heme oxygenase inhibitors
 Oral calcium phosphate and
carbonate
 Liver transplantation
 UGT1A1 is present at
reduced but detectable
levels
 treatment with phenobarbital is
effective
 Bilirubin levels are generally
below 345 µmol/L (100–430;
thus, there is overlap)
Distended paraumbilical veins
due to portal hypertension or liver
cirrhosis
Splenomegaly and hypersplenism
Renal stenosis will also present with an
abdominal bruit
 hypersecretion of Cortisol
 Exogenous
glucocorticoids: the MCC
 fat redistribution
central/trunkal obesity
 (+) cortisol-binding globulin
autoantibodies
Cushing’s reflex:
Bradycardia & hypertension in response
to increased Intracranial Pressure
Cushing’s Ulcer:
acute gastric ulcer associated with CNS
trauma
Complete or partial absence of the
cerebellar vermis
obstruction of the foramina of Magendie
and Luschka in infants
Congenital hypoplastic bone marrow
Diagnosis: increased erythrocyte
Adenosine deaminase
(NOTE: adenosine deaminase is
decreased/deficient in SCID)
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DiGeorge Syndrome “CATCH-22”  A primary immunodeficiency

Cardiac abnormality (esp.  Thymic hypoplasia
TOF)  Small deletion of band 11.2 on
Abnormal facies the long arm of
Thymic aplasia
Cleft palate
Chromosome 22
Hypocalcemia/Hypothyroidism  W ill present clinically with
“tetany” due to hypocalcemia
Variable T-cell deficiency

Down s yndrome  Flat facies, oblique Trisomy 21 (47,XY,+21)

“Drinking age: 21” palpebral fissure,  MC cause: MEIOTIC NON-
epicanthic folds, DYSJUNCTION
simian hand  95% of cases: influenced by
creases maternal age
 Brushfield spots  Most common cause of Mental
Retardation, not Fragile X
(iris hamartoma)
syndrome
 ↑ risk for ALL (acute
Chromosome 21: the common factor
lymphoblastic
between Down’s syndrome and
leukemia)
Alzheimer’s disease
 Premature Alzheimer’s
disease (age 35)
 Recurrent infections
 Cong. heart disease
 Duodenal atresia

Dubin-Johnson Autosomal recessive  The ratio of Coproporphyrin I is

syndrome 3-4 times higher (>80%) than
There is an increase in Coproporphyrin III (normal urine
conjugated/direct bilirubin contains more of the isomer III
without elevation of liver than isomer I)
enzymes  There is high level of canalicular
multi-drug resistant protein
Associated with a defect in the  High levels of gamma
ability of hepatocytes to glutamyl transferase
secrete conjugated bilirubin  Liver has dark pink or black
into the bile pigmentations
 Most are  Gallbladder cannot be visualized
asymptomatic  Hormonal contraceptives or
 Some neonates: pregnancy may lead to overt
cholestasis jaundice

Dumping syndrome Autonomic instability Delivery of a large amount of

Abdominal pain hyperosmolar chyme into the
Diarrhea small bowel, usually after vagotomy
Bloatedness and a gastric drainage procedure
(pyloroplasty and gastrojejunostom y)

Nerve of Latarjet when cut off

during vagotom y; controls the motility

Dressler syndrome Chest pain that resolves when  Post MI pericarditis

patient leans forward  Develops 2-10 months after
MI
 Immune-mediated pericarditis:
(+)myocardial neo-
antigens

Edwards syndrome Prominent occiput, MR, Trisomy 18 (47,XX,+18)

“Election age: 18” micrognathia
Low set ears, short neck
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Clenched fist,
overlapping fingers
Heart and renal malformations
Limited hip abduction
Rocker-bottom feet

Ehlers-Danlos “rubber man” syndrome  Abnormality in Collagen type

syndrome Hyperelasticity and severe I and III; ubiquitous in hard and
fragility of the skin (cutis laxa) soft tissues
Hypermobility of the joints
 Arthrochalasias type
Ocular fragility
 DDx: Osteogenesis imperfecta
(has blue sclera)

Eisenmenger’s Pulmonary hypertension  Reversal of the left-to-right shunt

syndrome Cyanosis into right-to-left
VSD in a child or ASD in  MC: Tetralogy of Fallot
adults

Felty’s syndrome Triad: Deficient PMN leukocytes and

1. Chronic Rheumatoid decreased number of cells 
Arthritis
Patient may have recurrent
2. Splenomegaly
3. Neutropenia infections, cutaneous ulcerations,
thrombocytopenia, lymphadenopathy
Occ. with: Anemia &
Thrombocytopenia DDx: W iskott-Aldrich, CGD, SCID

Fetal Alcohol Syndrome  Smooth philtrum

 thin upper lips
 small palpebral
fissures
 low birth weight
 microcephaly

Fitz-Hugh Curtis “violin string” Intraabdominal dissemination of PID

Syndrome adhesions in laparoscopy Perihepatic gonorrhea infection

Fragile X syndrome  Affected males:  “fragile site” on Xq27.3

Familial mental progressive  Multiple C G G nucleotide
retardation neurodegeneration, repeats (average #: 29; range: 6
severe MR, enlarged - 55)
testes  Abnormal gene methylation and
 Affected female: transcriptional suppression
premature ovarian
failure

Frey syndrome Post-gustatory  Due to damage to

sweating: a stimulus
intended for saliva production
results to sweat secretion
instead
auriculotemporal and
great auricular nerves
(e.g. trauma or surgery)
 Both fibers may innervate sweat
glands

Gardner’s syndrome  multiple polyps in the (+) Extra-colonic tumors: Desmoid

Familial colon tumors: soft tissue tumors:
adenomatous  impacted,  cong. Hypertrophy of the retinal
polyposis supernumerary teeth pigment epithelium
 multiple jaw osteomas  Sebaceous c ysts, epidermoid

(“cotton wool
appearance”)
 multiple odontomas
“polyps + osteomas +
Desmoid tumors =
Gardner’s”
Gilbert-Meulengracht Defective detoxification of
syndrome some drugs 
Unconjugated/Indirect
hyperbilirubinemia 
Jaundice
MC hereditary cause of
increased bilirubin (load)
Goodpasteur’s Kidney and lung involvement
syndrome “hematuria” and “hemoptysis”
Gullain Barre syndrome  Dem yelination
Ascending paralysis
 Rubbery legs
 W ould eventually need
ventilator assistance
(diaphragm)
Hallervorden Spatz Pantothenate kinase-
syndrome associated neurodegeneration
(PKAN)
progressive extrapyramidal
dysfunction and dementia
dystonia, parkinsonism
toe walking
retinitis pigmentosa
Eye of the Tiger sign
Hamman-Rich Cough
syndrome Fever
ARDS
Hemolytic-Uremic Thrombotic microangiopathic
syndrome hemolytic anemia
Renal failure (uremia)
Thrombocytopenia
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cysts
 Fibromas
 Thyroid cancer
APC Gene in
chromosome 5q21
 Defective
glucuronidation activity of
the enzyme UDPGT1A1
(uridine-diphosphate-
glucuronyltransferase isoform
1A1)
 Decreased risk for coronary
artery disease
 HLA DR2
 Anti-GLOMERULAR
BASEMENT MEMBRANE
Antibodies
 Crescents and linear deposits
(staining pattern)
 Type II hypersensitivity
Preceding infection (Campylobacter
jejuni, CMV, influenza virus)
Albuminocytologic dissociation
Familial HSD is inherited recessively;
linked to chromosome 20
A mutation in the pantothenate kinase
(PANK2) gene on band 20p13 has been
described: responsible in coding for the
protein Pantothenate kinase 2, which in
turn is responsible for stifling the
accumulation of N-pantothenoyl-
cysteine and pantetheine
 Cysteine dioxygenase
when this accumulation is not
suppressed direct cell toxicity or cell
toxicity as a result of free radical damage
due to the lack of suppression
neurodegeneration with brain iron
accumulation type 1 (NBIA-1)
 Acute interstitial pneumonitis or
Acute interstitial pneumonia
 an Idiopathic Lung
Fibrosis
A “consumptive coagulopathy”;
associated with
Escherichia coli Serotype 0157:H7

Classic triad:
1. Vasculitis
2. Arthritis
3. Abdominal pain:
colick y in character
Henoch-Schonlein
a.k.a.:
Anaphylactoid purpura /
Purpura Rheumatica
HERMAPHRODITISM True hermaphrodites:
ovaries and testes are both
present
Female pseudohermaphrodite:
Normal ovaries and internal
genitalia, but ambiguous or
virilized external genitalia
Male pseudohermaphrodite:
Gonads are exclusively testes,
but external genitalia are
ambiguous or completely
female (DDx: Klinefelter’s)
Horner’s syndrome Triad:
1. Ptosis
2. Anhydrosis
3. Myosis
Enophthalmos (sunken
eyeballs)
Hunter’s syndrome Prominent forehead, MR
(the milder form of Flattened nose-bridge
Hurler’s) Macroglossia (classic PE in
Cretinism)
Abdominal hernias
Ear and resp. tract infections
Limited lung capacity
Ivory-colored, pebbly
skin lesions in the limbs
and upper back
Stiffness of major joints
Hurler’s s yndrome Gargoylism
Dwarfism, MR
Hepatosplenomegaly
Hearing loss
Retinal degeneration
Carpal tunnel syndrome
Macroglossia (classic PE in
Cretinism)
Stiffness of major joints
10
a small-vessel vasculitis in which
complexes of immunoglobulin A (IgA)
and complement component 3 (C3) are
deposited on arterioles, capillaries, and
venules
Palpable Purpura (the
hallmark) typically appear on the legs
and buttocks, but may also be seen on
the arms, face and trunk
 joints involved tend to be
the ankles, knees, and elbows
kidney involvement, mainly in the form
of hematuria and/or nephrotic syndrome
Biopsy: leukoclastic angiitis
th
proposed 4th criterion: hemorrhage of the
GITract
Very rare; 46,XX / 46,XY
46,XX
MC cause: androgenic steroid
exposure during gestation
Results from defective virilization of the
male embryo because of reduced
androgen synthesis or resistance to
action of androgen
(+) in Pancoast tumor (a.k.a.
pulmonary sulcus tumor / superior sulcus
tumor)
In the lung apex
 A lysosomal storage disease
(Mucopolysaccharidoses)
 L-Iduronosulfate
sulfatase deficiency
 Accumulation of dermatan
sulfate and heparan sulfate
 X-linked
 Treatment: palliative
 ELAPRASE- a s ynthetic, purified
form of iduronate-2-sulfatase
 s/e: hypersensitivity rxn
 A lysosomal storage disease
(Mucopolysaccharidoses)
 Alpha-L-iduronidase
deficiency
 Accumulation of dermatan
sulfate and heparan sulfate
 Autosomal recessive
 Excess mucopolysaccharide are
 11

excreted in the urine

 Treatment: enzyme replacement
therapy, Bone Marrow
transplant, Umbilical cord blood
transplantation

Kartagener’s syndrome Triad: Dynein defect

 Situs invertus Primary Ciliary Dyskinesia
(dextrocardia)
 Chronic sinusitis
 Bronchiectasis

Klein-Levine syndrome  Periodic somnolence Mostly adolescent boys  sleep

and overeating for 18 hours or more in a day
 Appear dull, confused, Awakes only to eat and to attend to toilet
irritable needs

Klinefelter syndrome  Male 47,XXY / 46,XY

hypogonadism,
infertility, atrophic DDx: Male Pseudohermaphrodism,
testes Congenital adrenal Hyperplasia (5α-
 Gynecomastia reductase deficienc y)
 Eunuchoid body
habitus
 Elevated FSH and
estrogen; low
testosterone

Kluver Buc y syndrome Hypersexuality Bilateral lesions of the amygdala

Hyperphagia bilateral temporal lobe dysfunction
Hyperorality
Hyperdocality Treatment: SSRI (selective serotonin
Visual agnosia reuptake inhibitor) anti-depressant
Emotional lability effect

Knobloch syndrome  Extreme Abnormality in Collagen type XVIII

nearsightedness (COL18A1) gene; endostatin-forming
(high m yopia) collagens, endothelial cells
 Vitreoretinal
degeneration
 Occipital
encephalocoele

Lady W indermere Collarstud abscess NRAM protein

syndrome Infection with Mycobacterium AIDS
avium intracellulare

Lambert-Eaton Small cell lung cancer  A paraneoplastic syndrome

Myasthenic syndrome Hypothyroidism  A rare autoimmune disorder;
Diabetes mellitus type 1  antibodies are formed against
Thymoma pre-synaptic voltage-gated
calcium channels in
the neuromuscular junction
 muscle weakness of the limbs

Lennox Gastaut Nocturnal tonic seizures
syndrome Myoclonic seizures
(when over-tired)
Behavioral problems
Childhood onset (between ages 2-6)
D.O.C. : Lamotrigine (s/e: Stevens
Johnson s yndrome)
Rufinamide
Topiramate

Developmental delay
Leriche’s syndrome Claudication of buttocks
Impotence
Atrophy of buttocks
Lesch-Nyhan s yndrome Self-mutilation
Hyperuricemia Gout
Aggressiveness
Mental retardation
Li Fraumeni s yndrome
several kinds of CANCER are
involved; often appears at a
young age; and, often appears
several times throughout the
life of an affected person
Louis-Bar syndrome a.k.a Ataxia-Telangiectsaia
a rare neurodegenerative
disease
Lucey-Driscoll Neonatal Jaundice
syndrome
Uridine diphosphate glucuronyl
transferase isoform 1A1
(UDP-GT1A1 or UGT1A1
Lynch syndrome Hereditary non-
polyposis colorectal
cancer (HNPCC)
12
Seen in iliac occlusive disease
Absence of HGPRTase
Lacks the nucleotide salvage (purine
metabolism) excess uric acid
production
TP53 gene (Guardian of the
Genome)
A tumor-suppressor gene; in the short
arm of Chromosome 17: [17p13.1]
can activate DNA repair proteins when
DNA has sustained damage
can induce growth arrest by holding
the cell c ycle at the G1/S regulation
point on DNA damage recognition (if it
holds the cell here for long enough, the
DNA repair proteins will have time to fix
the damage and the cell will be allowed
to continue the cell cycle)
can initiate apoptosis, the programmed
cell death, if DNA damage proves to be
irreparable
 Progressive cerebellar
ataxia
 Oculomotor apraxia (difficulty
moving the eyes in a natural
manner from one place to the
next)
 Choreoathetosis
 Dysarthria (slow, slurred,
distorted speech)
 Telangiectasia of the skin and
conjunctivae (“bloodshot eyes”)
 W eakness of the immune
system recurrent
infection
 Prevents repair of DNA 
predisposition to cancer
Autosomal recessive
Classified as a transient familial
neonatal unconjugated
hyperbilirubinemia
May also be caused by maternal steroids
passed on through breastmilk to the
newborn
Autosomal dominant mutation of DNA
mismatch repair genes
Other cancer predisposition:
Endometrial, ovarian, gastric,
 13

hepatobiliary tract, small intestinal tract,

upper urinary tract, brain and skin

Mallory W eiss syndrome  Bleeding due to tear in  Associated with alcoholism,

the gastroesophageal eating disorder, hiatal hernia,
junction (distal and NSAIDs
esophagus)
 mucosa and  Boerhaave’s: muscularis layer is
submucosa only included
 Excessive retching,
coughing, vomiting

Marfan syndrome Tall, lank y, long limbs, long  The gene FBN1 encodes for the
thin fingers connective tissue protein:
example: Abraham (dolichostenomelia) FIBRILLIN-1
Lincoln  W ith CHD: MVP, aortic common cause of death: Dissecting
regurgitation Aneurysm of the aorta due to cystic
(+) Barlow s yndrome
(midsystolic click) medial necrosis
 subluxation of the lens
there is also excessive Transforming
(ectopia lentis),
growth factor ß (TGF-ß), which the
Astigmatism,
fibrillin-1 normally bindsaffects the
Nearsightedness
vascular smooth ms development and
integrity of the ECMatrix

Mayer-Rokitansk y- Congenital Agenesis of  46XX

Kuster-Hauser the Uterus and Vagina  Uterus and vagina may be
syndrome (CAUV) underdeveloped or absent
a.k.a. the ff:  (+) primary amenorrhea
 Genital Renal Ear  Normal ovaries
syndrome (GRES)  Normal external genitalia
 MRKH syndrome
 Mullerian aplasia Kidney may be abnormally formed or
 Mullerian dysgenesis positioned, or one kidney may fail to
develop (unilateral renal agenesis)
due to incomplete
development of the Müllerian commonly develop skeletal
duct abnormalities, particularly of the spinal
bones (vertebrae)
(NOTE: Alport’s syndrome also
present with Renal and Ear s/sx) may also have hearing loss or heart
defects

McCune Albright  Precocious Almost always in a female

syndrome puberty(estrogen) Unilateral Café au lait spots (Coast of
Maine appearance)
 Polyostotic fibrous (NOTE: café au lait spots in Von
dysplasia Recklinghausen are bilaterally distributed)
an abnormal bone growth
where normal bone is replaced
with fibrous bone tissue;
medullary cavity of bones is
filled with fibrous tissue,
causing the expansion of the
areas of bone involved

(+) multiple cystic bone

lesions: Shepherd’s crook
deformity on Xray

The bony trabeculae are

abnormally thin and irregular,
and often likened to Chinese
characters

most severe form of

 14

polyostotic fibrous dysplasia

(several bones involded)

(NOTE: Fibrous dysplasia of bone

may also be an associated
abnormality in Neurofibromatosis
ty p e II)

Meige’s syndrome  Blepharospams Botox may be useful

(excessive blinking,
squinting, light
sensitivity)

 Oromandibular
dystonia (tongue
protrusion, chin
thrusting, muddled
speech, jaw spasm)

Meigs syndrome Triad Resolves after tumor resection

 Ascites
 Pleural effusion
 Benign ovarian
tumor (fibroma)

MEN-1 (W ermer)  3 Ps: Pancreatic,  Mutation of the MEN-1 gene that

syndrome Parathyroid, Pituitary encode the protein menin
disorders  Leads to Zollinger-Ellison
 Gastrinoma from the syndrome
duodenum

MEN-2A (Sipple)  100% Medullary

Syndrome Thyroid CA
 33%
Pheochromocytoma

MEN-2B (W agenmann-  100% mucosal the mutation: a single methionine

Froboese) syndrome neuromas
 Marfanoid body
habitus
 Medullary thyroid CA
 Pheochromocytoma
to threonine substitution in the
intracellular tyrosine kinase domain -
alters the substrate specificity of
intracellular signal

Mendelson’s syndrome General hypoxia 2-5 hours Chemical pneumonitis after aspiration of
after anesthesia gastric contents
Hypotension
Pulmonary edema

Mirizzi’s syndrome  Jaundice Gallbladder neck stone that

 Recurrent cholangitis causes obstruction
 RUQ pain
 Cholecystitis
 pancreatitis
 Elevated bilirubin and
alklanine phosphatase

Munchausen s yndrome Patient will fabricate or  A psychiatric/

(a.k.a. hospital feign a disease or psychological condition
addiction syndrome,  Common in paramedics,
“thick chart” syndrome,
illness
caregivers
hospital hopper
Patient is aware that he is  Aims at drawing attention,
syndrome) sympathy, comfort

exaggerating or malingering
(hence, different from
hypochondriasis)
Noonan’s s yndrome  Pulmonary valve
stenosis
 Atrial septal defect
 Pectus carinatum
(“pigeon breast”)
 Short stature
 W ebbed neck
 Antimongoloid slanting
of the palpebral
fissure, wide-spaced
eyes,
hypertelorism
 Impaired blood clotting
Ogilvie’s syndrome Colonic dilation and
obstruction in the absence
of a mechanical
obstruction
“pseudo-obstruction”
Osler-W eber-Rendu Nosebleeding
syndrome Acute or chronic GIT bleeding
(hereditary hemorrhagic Telangiectasia/AV
telangiectasia) malformation
Parinaud’s syndrome  Limited upward gaze
 Accomodative spasm
 Light near dissociation
of pupils
Parkinsonism Tremor
(a.k.a. Parkinson’s Hypokinesia
syndrome, Atypical Postural instability
Parkinson’s, Secondary Rigidity
Parkinson’s)
Patau syndrome Micropthalmia, microcephaly
and MR
Polydactyly
Cleft lip and palate
Umbilical hernia
Heart and kidney defects
Rocker bottom feet
Pendred s yndrome Primary Hypothyroidism
15
Referred as the male phenotype of
Turner’s syndrome
A RASopathy
Usually after a coronary artery bypass or
total joint replacement
Anticholinergics
Opiod analgesics
Abnormal blood vessel formation in the
mucosal membranes, lungs, liver or
brain
Clinical manifestation of Astrocytoma
 Abducens nerve palsy
 Raised intracranial pressure
 Hemianopia
 GH deficiency, adrenal
insufficiency
May be caused by:
 Parkinson’s disease
 AIDS
 Creutzfeld-Jakob disease
 Dementia pugulistica (“Boxer’s
dementia)
 W ilson’s disease
 Chlorpromazine, Haloperidol
Non-disjunction of chromosomes during
meiosis
Trisomy 13 (47,XX,+13)
Hypothyroidism with
sensorineural hearing loss
(NOTE: if it is renal sx + sensorineural
hearing loss: Alport’s syndrome)
 16

Due to mutations in SLC26A4,

encoding the pendrin anion transporter
on thyroid and inner ear epithelium

Peutz-Jeghers  Benign STK11 gene on Chromosome 19

syndrome hamartomatous (mutation)
(a.k.a. hereditary polyps of the GIT
intestinal polysposis  Hyperpigmented Oral findings are same with Addison’s
syndrome) macules around the disease and McCune Albright
lips and oral mucosa:
buccal hyper-
pigmentation

Pickwickian syndrome Obesity Tx: W EIGHT LOSS

(Obesity hypoventilation Hypoxia Interrupted night sleep that leads
syndrome) Hypercapnea to excessive daytime sleepiness
Hypoventilation
Somnolence DDx: Klein-Levine syndrome
Increased hematocrit
Erythrocytosis

Pierre Robin s yndrome Micrognathia One of the common life-threatening

Cleft palate congenital anomalies
Airway obstruction

Plummer Vinson Triad: Usually in post menopausal women

syndrome  Esophageal 10% develop squamous cell carcinoma
(a.k.a. Paterson-Brown- webs dysphagia
Kelly syndrome) Associated with koilonychias,
 Iron deficiency
anemia spoon- splenomegaly, cheilitis
shaped nails
 Glossitis (atrophic
oral mucosa and
tongue)

Potter syndrome Potter facies: flattened nose,
recessed chin, prominent
epicanthal folds, low-set
abnormal ears
Pulmonary hypoplasia:
The degree depends on the
degree and duration of
oligohydramnios, as well as
the stage of lung development
at which oligohydramnios
occurs
Features of Eagle-Barrett
(prune belly) syndrome:
an occasional cause of the
Potter syndrome; neonates
have a deficient abdominal
wall, undescended
testes, dilated ureters, and a
renal pelvis
physical appearance and associated
pulmonary hypoplasia of a neonate as a
direct result of
oligohydramnios and compression
while in utero
Skeletal malformations: Hemivertebrae,
sacral agenesis, and limb anomalies
may be present
Ophthalmologic malformations: Cataract,
angiomatous malformation in the optic
disc area, prolapse of the lens, and
expulsive hemorrhage may be present
Cardiovascular
malformations: Ventricular septal defect,
endocardial cushion defect, tetralogy of
Fallot, and patent ductus arteriosus may
be present

Prader-W illis syndrome Short stature Paternal C15 is deleted; maternal

Polyphagia Marked obesity sequence is normal
MR
Hypogonadism Chromosome 15q:11-13
Cryptorchidsm

Excessive sleeping
Hypotonia
Raynaud’s syndrome hyperactivation of the
(Secondary Raynaud’s) sympathetic system causing
extreme
vasoconstriction of the
peripheral blood
vessels, leading to tissue
hypoxia, eventually necrosis
and gangrene
Refeeding syndrome Hypokalemia
Hypomagnesemia
Hypophosphatenemia
Metabolic disturbances that
occur after refeeding or
reinstituting nutrition in a
severely starved or
malnourished patient
Reiter’s syndrome  Uveitis (conjunctivitis)
 Inflammatory Arthritis
(reactive arthritis)
 Urethritis in males or
Cervicitis in females
Red man’s syndrome  Pain
 Thrombophlebitis
 Hypotension
 Angioedema
 Erythematous rash on
the face, neck, and
upper torso
Reye’s syndrome Seizure
Hepatic failure
(often fatal
hepatoencephalopathy)
17
W ill have GnRH and GH
deficiency
Secondary to:
 SLE, RA
 Scleroderma
 Sjogrens syndrome
 Anorexia nervosa
 Multiple Sclerosis
 Atherosclerosis
 Takayasu’s disease
 Buerger’s disease
 Drugs
Usually occurs within 4 days at the
start of feeding
Insulin secretion resumes in response to
increased glycemia; resulting in
increased glycogen, fat and protein
synthesis. This process requires
phosphates, magnesium and potassium
which are already depleted and the
stores rapidly become used up
 HLA B27
 Keratoderma blenorrhagica
 most common triggers are
intestinal infections with
Salmonella, Shigella or
Campylobacter and sexually
transmitted infections with
Chlamydia trachomatis or
Neisseria gonorrheae
VANCOMYCIN drug administration
Non-specific mast cell
degranulation, not IgE-mediated
 Always in PEDIATRICS!
 (+) microvesicular fatty change &
mitochondrial abnormalities
 After a viral infection
treated with Salicylates
(aspirin) ↓ß-oxidation by
reversible inhibition of
mitochondrial enzym e
 usually influenza B,
measles or varicella
zoster

Reynold’s pentad Right upper quadrant pain
Fever
Jaundice
Altered mental status
Septic shock
Rotor syndrome “non-itching” jaundice
(Named after a Filipino
internist: Arturo Belleza Conjugated/Direct
Rotor) hyperbilirubinemia
“Direct to DR:”
Direct/Conjugated
Hyperbilirubinemias are Dubin-
Johnson’s and Rotor’s
Septic shock syndrome Triad:
1. DIC
2. Metabolic
disturbances
3. Cardiovascular
failure
Sheehan’s syndrome Amenorrhea or
(a.k.a. Simmond’s oligomenorrhea
syndrome) Agalactorrhea
Fatigue
 The hypotension is
due to the inadequate
blood supply to the
hyperplastic pituitary
gland  vessels
squeeze half-shut 
“watershed infarction”
Short gut s yndrome Malnutrition resulting from less
than 100 cm of viable small
bowel
Shy Drager syndrome Parkinsonism +
Disautonomia
Sjogren’s syndrome  Keratoconjunctivitis
sicca (Pilocarpine or
Civemiline)
 Xerostomia (dry
mouth)
(sugarless candy)
 Parotid enlargement
 Rheumatoid arthritis
(hydrochloroquine)
 Vaginal dryness
Autoimmune: cells that
attack and destroy
exocrine glands
18
 Apririn is given only to Kawasaki
disease in children
Severe acute ascending cholangitis
 Similar to DJS, but liver has
normal histology and
appearance
 Gallbladder can be visualized by
oral cholec ystogram
 Total urine coproporphyrin
content is high with <70% being
isomer I
Due to enormous production of TNF
and IL-1, in the case of bacterial
infection (sepsis)
Postpartum and post-D&C pituitary
necrosis (hypopituitarism)
Blood loss and hypovolemic
shock during the procedure and at
childbirth
Hyperptrophy and hyperplasia of
lactotrophs
Enlargement of anterior pituitary
Low pressure portal venous
system as blood supply
Predominance of the autonomic
dysfunction in Multiple Systemic Atrophy
Mikulicz disease
Or Sicca syndrome
 Patients have rheumatoid factor
(IgM autoantibody) without the
rheumatoid arthritis, ANA, Anti-
Ro, anti-La
 Epstein Barr virus & Hep C are
implicated
 (-) Schirmer’s test (Tear
flow measurement): filter paper
pressed on the canthus to
 19

induce production of tears

 Rose Bengal staining

Smith-Lemli-Opitz  Pre and post-natal Caused by a deficienc y of

syndrome growth retardation 7-dehydrocholesterol reductase
 Facial dysmorphic
features Mutation in the sterol delta-7-reductase
 Hypospadia gene (DHCR7)
 MR
Syndactyly between
toes 2 and 3

Stein-Leventhal Anovulation Resistance to insulin: type 2 DM

syndrome Amenorrhea High levels of cholesterol
(a.k.a. Polycystic Ovary Infertility
Syndrome) Hirsutism, acne

Stevens-Johnson  Ulcerations and A milder form of toxic epidermal

syndrome lesions on mucous necrolysis (dermis separates from
membranes epidermis)
 Conjunctivitis
 Rash of round lesions May follow an infection such as HSV,
on the face, trunk, H.influenzae, EBV, histoplasmosis
arms, legs, soles
Associated with intake of:
 Sulfonamides
 Allopurinol
 Lamotrigine
 Phenytoin
 Penicillin
 Barbiturates

Stickler syndrome  Flattened facial Abnormality in Collagen type XI; in the

appearance cartilage, vitreous
 Small upper jaw => (COL11A1, COL11A2, COL2A1 genes)
U-shaped or V-shaped
cleft palate
 Macroglossia
 Ear infections
 High m yopia, cataract
 Mild to severe hearing
loss
 Hypermobile joints

Sturge W ebber o Portwine Encephalotrigeminal angiomatosis

syndrome stain/nevus on the (over abundance of capillaries around
forehead or face, the ophthalmic branch of
treated by: laser trigeminal nerve)
o Seizure
o Glaucoma, choroidal Ipsilateral leptomeningeal angioma 
angioma arteriovenous malformations
o MRet.

Superior Vena Cava Engorged face and neck May be caused by goiter, mediastinal
syndrome vessels mass or a tumor that obstructs the SVC

Dyspnea
Facial edema
Headache
Edema of the upper limbs
Pemberton’s sign
Tietze’s s yndrome Acute pain in the chest
Tenderness and swelling of
the costal cartilages
May mask MI
Pain radiates to arms and
shoulders
Tietz’ s yndrome Deafness
Leucism (albinism)
Toxic shock syndrome Fever
Hypotension
Organ failure
Desquamation of palms and
soles
Tumor lysis syndrome Hyperkalemia
Increased uric acid
Turcot’s syndrome Familial adenomatous
polyposis + malignant CNS
tumor
 Webbed neck or
puffy neck or
redundant skin
folds
 Ovarian
dysgenesis
 Broad chest
 Primary amenorrhea
 Horseshoe kidneys
Turner’s syndrome  Coarctation of
(Ullrich Turner the Aorta
syndrome)
VATER syndrome Vertebral defects
Imperforate Anus
Tracheo-Esophageal fistula
Radial and Renal dysplasia
Von Hippel Lindau  Problems with balance
syndrome and walking
 Dizziness
 W eakness of the limbs
 Visual problems
The causal gene: VH1
encodes for hypoxia-induced
20
MC: Bronchogenic carcinoma
Do not confuse with Costochondritis (no
tenderness of costal cartilages)
Repeated coughing, sneezing, vomiting
or impact to the chest
Mutations in the microphthalmia
associated transcription factor (MITF)
gene
Staphylococcus aureus toxin-induced
 Rapid spontaneous lysis of
malignant cells
 Urate-induced acute
renal failure
 An onco emergency, just like
SVC syndrome
 45,X: XO Monosomy (absence
of the Barr body)
 Accelerated loss of oocytes:
undergo menopause before
experiencing menarche
 Short stature: due to loss of both
copies of the short stature
homeobox gene (SHOX) on the
X chromosome, which affects
height
One of the common life-threatening
congenital anomalies
Hemangioblastoma
Increased Renal cell carcinoma
Pheochromocytoma
Port-wine stains: Angiomatosis
Eye dysfunction
Liver c yst, Pancreatic serous
cystadenoma, Kidney cyst
 21

factor-1 expression (HIF-1) Dysregulated HIF-1 ↑vascular

EGF, erythropoietin, and other growth
factors

Von Recklinghausen  Lisch nodules in the  Caused by a mutation of NF1

syndrome iris gene in the long arm of
Neurofibromatosis I  Café au lait spots all Chromosome 17 which
over the body
encodes a protein:
 Glial tumors such as:
neurofibromin 1
Optic nerve gliomas
blindness
 Cancer may arise in the form of
 Astrocytoma
Malignant peripheral nerve
 ADHD sheath tumors
 Brown cyst of the
bone: skeletal (bowing
of legs)

In Neurofibromatosis Bilateral acoustic neuroma

type II Due to inactivating mutations of NF2
(or bilateral eight nerve
schwannoma)
Multiple meningioma,
cataracts, optic gliomas

Yellow nails s yndrome Triad of: Due to hypoplastic lymphatics

Lymphedema
Pleural effusion Also has bronchiectasis
Yellow discoloration of the
nails

W aterhouse Massive adrenal MC: Neisseria meningitides

Friderichsen syndrome bleeding due to an Strep. Pneumonia
(or Fulminant overwhelming bacterial M.Tb
Menigococcemia) infection Staph. Aureus
Adrenal crisis CMV
H. influenza

W eil’s syndrome Jaundice  Severe Leptospirosis

Renal failure (oliguria)  Profound/orange cast
Dyspnea jaundice (4-9 days after onset
Hepatomegaly of illness)
 D.O.C. as treatment: IV
Penicillin
Pedia prophylaxis: Penicillin
(not doxycycline)
Adult Prophylaxis: Doxycycline (single
dose)
 Renal tubules: where the
leptospires will lodge in the host
(Rodent’s urine)

W erner syndrome Premature aging Defective DNA helicase (mutation)

with accelerated accumulation of
chromosomal damage; this mimics the
injury that normally accompanies aging

W HDA syndrome Watery diarrhea  VIPoma (vasoactive intestinal

(a.k.a. Verner Morrison Hypokalemia peptide tumor)
Syndrome) Dehydration  Non ß-islet cell tumor
 22

Achloridia  Pancreatic Cholera

Syndrome

W hite clot syndrome Heparin-induced Heparin-induced Thrombocytopenic

platelet antibodies cause Thrombosis (HITT)
platelets to thrombose vessels,
often resulting to loss of a limb
or life

W iskott-Aldrich  Eczema  Rare, inherited, X-linked

syndrome recessive disease; due to
 Thrombocytopeni
mutations in the gene for WAS
a protein located at Xp11.23
 Immune deficienc y (short arm)
 Bloody diarrhea  Normal thymus, but with
(secondary to peripheral lymphoid T cell
thrombocytopenia) depletion
 Increased risk for non-  Low IgM levels
Hodgkin B-cell
lymphoma  Elevated IgA and IgE
 Normal IgG

W olff Parkinson W hite (+) Delta waves in ECG Electrical signals travel the abnormal
syndrome (not always) conduction pathway: Bundle of Kent
Supraventricular
tachycardia The ventricles are stimulated to contract
Short pr interval prematurely
Early QRS complex

Zellweger syndrome Cerebrohepatorenal s yndrome  Reduction or absence of

Leukodystrophies functional peroxisomes in the
cells (Pipecolate oxidase)
 Impaired neuronal migration,
neuronal positioning and brain
development

Zollinger Ellison Severe ulcer disease  Gastrinoma

syndrome  Multiple Endocrine Neoplasia
(MEN) Type 1