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A-Z Syndromes List

Syndrome Description
Achondroplasia Autosomal dominant dwarfism due to early epiphyseal closure shortening &
thickening of bones. Si/Sx = leg bowing, hearing loss, sciatica, infantile
hydrocephalus. Patients can live normal lifespans.
Adrenoleukodystrophy X-linked recessive defect in long-chain fatty acid metabolism due to a
peroxisomal enzyme deficiency. Causes rapidly progressing central
demyelination, adrenal insufficiency, hyperpigmentation of skin, spasticity,
seizures & death by age 12
disease (osteopetrosis)
** Skeletal density due to osteoclastic failure ® multiple fractures due to ¯
perfusion of thick bone, also causes anemia due to ¯ marrow space & blindness,
deafness & cranial nerve dysfunction due to narrowing & impingement of neural
Alkaptonuria Defect of phenylalanine metabolism causing accumulation of homogentisic acid.
Presents with black urine, ochronosis (blue-black pigmentation of ear, nose, and
cheeks) & arthropathy due to cartilage binding homogentisic acid.
Alport’s syndrome X-linked hereditary collagen defect causing sensorineural hearing loss, lens
dislocation, hematuria (glomerulonephritis).
Ataxia-Telangiectasia DNA repair defect affects B & T lymphocytes. Autosomal recessive disease
usually appears by age 2. physical signs include ataxia of gait, telangiectasias of
skin & conjuctiva, & recurrent sinus infections.
Banti’s syndrome “Idiopathic portal HTN.” Splenomegaly & portal HTN following subclinical
portal vein occlusion. Insidious onset, occurring years after initial occlusive
Bartter’s syndrome Kidney disease that causes Na, K & Cl wasting. Despite increased levels of
renin, the blood pressure remains low.
Autosomal dominant fetal overgrowth syndrome of macrosomia, microcephaly,
macroglossia, organomegaly, omphalocele, distinctive lateral earlobe fissures,
hypoglycemia a/w hyperinsulinemia, * incidence of Wilms’ tumor.
Autosomal recessive defect of platelet GpIb receptor (binds to vWF), presents
with chronic, severe mucosal bleeds & giant platelets on blood smear
Binswanger’s disease Subacute subcortical dementia caused by small artery infarcts in periventricular
white matter. Usually seen in long-standing hypertension, but is rare.
X-linked block of B-cell maturation, causing ¯ B cell levels & immunoglobulin
levels. Presents with recurrent bacterial infections in infants >6mo of age
Caisson’s disease Decompression sickness (“the bends”) caused by rapid ascent from deep-se
diving. Sx occur from 30min to 1hr = joint pain, cough, skin burning/mottling.
Caroli’s disease Segmental cystic dilation of intrahepatic bile ducts complicated by stones &
cholangitis, can be cancer precursor.
Autosomal dominant peroneal muscular atrophy causing foot drop & stockingglove
decrease in vibration/pain/temperature sense & DTRs in lower
extremities. Histologically ® repeated demyelination & remyelination of
segmental areas of the nerve. Patients may present as children (type 1) or adults
(type 2)
Autosomal recessive defect of microtubule function of neutrophils, leads to
decreased lysosomal fusion to phagosomes. Presents with recurrent
Staphylococcus & Streptococcus infections, albinism, peripheral & cranial neuropathies.
A central apnea seen in CHR, * ICP, or cerebral infection/inflammation/trauma:
cycles of central apena followed by regular crescendo-decrescendo breathing
(amplitude first waxes & then wanes back to apnea): Biot’s is an uncommon
variant seen in meningitis in which the cycles consist of central apnea followed
by steady amplitude breathing that then shuts back off to apnea.
granulomatous disease
Phagocytes lack respiratory burst or NADPH oxidase, so can engulf bacteria but
are unable to kill them. Presents with recurrent infections with Aspergillus & S.
aureus infections. Tx = recombinant interferon-g.
Cystinuria Autosomal recessive failure of tubular resorption of cystine & dibasic amino
acids (lysine, ornithine, arginine), clinically see cystine stones. Tx = hyd ration
to * urine volume, alkalinizaiton of urine with bicarbonate & acetazolamide
De Quervain’s
Tenosynovitis causing pain on flexion of thumb (motion of abductor pollicis
“Pure red cell aplasia,” a conge nital or acquired deficiency in the RBC stem cell.
Congenital disorder is sometimes a/w abnormal facies, cardiac & renal
abnormalities. Tx = steroids.
DiGeorge’s syndrome Embryologic defect in development of pharyngeal pouches 3 & 4 ® thymic
aplasia that causes T-cell deficiency, & parathyroid aplasia. Most commonly
presents with tetany due to hypocalcemia secondary to hypoparathyrdoiism, &
recurrent severe viral, fungal, or protozoal infections.
Dressler’s syndrome Acute pericarditis, develops within 2-4wk after acute MI or heart surgery, may
be due to autoimmune reaction to myocardial antigens.
Autosomal dominant defect in collagen synthesis, variable expressivity. Si/Sx =
loose joints, pathognomonic ¯ skin elasticity, mitral regurgitation, genu
recurvatum of knee (fixed in hyperextension), aortic dilation.
Ehrlichiosis Rickettsial family member, Ehrlichiosis canis, causes acute febrile illness,
malaise, myalgia, severe headache but with no rash. The protracted illness
presents with leukopenia, thrombocytopenia & renal failure. It is contracted by
tick bites.
Ellis-van Creveld Syndrome of polydactyly + single atrium
Erb’s paralysis Waiter’s tip—upper brachial plexopathy (C5,6).
Evan’s syndrome IgG autoantibody-mediated hemolytic anemia & thrombocytopenia, a/w
collagen- vascular dz, TTP, hepatic cirrhosis, leukemia, sarcoidosis, Hashimoto’s
thyroiditis. Tx = prednisone & intravenous immunoglobulin.
Fabry’s disease X-linked defect in galactosidase, Sx = lower trunk sin lesions, corneal opacity,
renal/cardiac/cerebral disease that are invariably lethal in infancy or childhood
Fanconi’s anemia Autosomal recessive disorder of DNA repair. Presents with pancytopenia, *
risk of malignancy, short stature, bird-like facies, café-au- lait spots, congenital
urogenital defects, retardation, absent thumb.
Fanconi’s syndrome Dysfunction of proximal renal tubules, congenital or acquired (drugs, multiple
myeloma, toxic metals), presenting with ¯ reabsorption of glucose, amino acids,
phosphate, & bicarbonate. A/w RTA type II, clinically see glycosuria,
hyperphosphaturia, hypophosphatemia (vitamin D-resistant rickets),
aminoaciduria (generalized, not cystine specific), systemic acidosis, polyuria,
Farber’s disease Auto recessive defect in ceramidase, causing ceramide accumulation in nerves,
onset within months of birth, death occurs by age 2.
Felty’s syndrome Rheumatoid arthritis plus splenomegaly & neutropenia, often with thrombocytopenia.
Variant of hepatocellular carcinoma. Occur sin young people (20-40yr), is not
a/w viral hepatitis or cirrhosis. Has a good Px. Histologically shows nests &
cords of malignant hepatocytes separated by dense collagen bundles.
Chlamydia or gonorrhea perihepatitis as a complication of pelvic inflammatory
disease. Presents with right upper quadrant pain & sepsis.
Galactosemia Deficient galactose-1-phosphate uridyl transferase blocks galactose conversion
to glucose for further metabolism, leading to accumulation of galactose in many
tissues. Sx = failure to thrive, infantile cataracts, mental retardation, cirrhosis.
Rarely due to galactokinase deficiency, blocking the same path at a different
Gardner’s syndrome Familial polyposis syndrome with classic triad of desmoid tumors, osteomas of
mandible or skull & sebaceous cysts.
Gaucher’s disease The most frequent cause of lysosomal enzyme deficiency in Ashkenazi Jews.
Autosomal recessive deficiency in b-glucocerebrosidase. Accumulation of
sphingolipids in liver, spleen & bone marrow. Can be fatal if very expensive
enzyme substitute (alglucerase) not administered.
Autosomal recessive defect in GpIIbIIIa platelet receptor that binds fibrinogen,
inhibiting platelet aggregation, presents with chronic, severe mucosal bleeds.
Glycogenoses Genetic defects in metabolic enzymes causing glycogen accumulation. Si/Sx =
hepatosplenomegaly, general organomegaly, exertional fatigue, hypoglycemia.
Type I = von Gierke’s disease, type II = Pompe’s disease, type III = Cori’s
disease, type V = McCardle’s disease
Hartnup’s disease Autosomal recessive defect in tryptophan absorption at renal tubule. Sx mimic
pellagra = the 3 D’s: Dermatitis, Dementia, Diarrhea (tryptophan is niacin
precursor). Rash is on sun-exposed areas, can see cerebellar ataxia, mental
retardation & psychosis. Tx = niacin supplements.
Hepatorenal syndrome Renal failure without intrinsic renal dz, occurring during fulminant hepatitis or
cirrhosis, presents with acute oliguria & azotemia, typically progressive & fatal.
Holt-Oram syndrome Autosomal dominant atrial septal defect in association with finger- like thumb or
absent thumb, & cardiac conduction abnormalities & other skeletal defects
Homocystinuria Deficiency in cystine metabolism. Sx mimic Marfan’s = lens dislocation
(downward in homocystinuria as opposed to upward in Marfan’s), thin bones,
mental retardation, hypercoagulability & premature atherosclerosis ® strokes &
Hunter’s disease X-linked lysosomal iduronidase deficiency, less severe than Hurler’s syndrome.
Sx = mild mental retardation, cardiac problems, micrognathia, etc.
Hurler’s disease Defect in iduronidase, causing multiorgan mucopolysaccharide accumulation,
dwarfism, hepatosplenomegaly, corneal clouding, progressive mental retardation
& death by age 10.
Isovalinic academia “Sweaty- foot odor” disease. Caused by a defect in Leucine metabolism, leads to
buildup of isovaline in the bloodstream, producing characteristic odor.
Job’s syndrome B-cell defect causing hyper-IgE levels but defects in other immunoglobulin &
immune functions. Presents with recurrent pulmonary infections, dermatitis,
excess teeth (pts unable to shed their baby teeth), frequent bone fractures, classic
“gargoyle facies,” IgE levels 10- to 100-fold higher than normal
Kasabach-Merritt An expanding hemangioma trapping platelets, leading to systemic
Keshan’s disease Childhood cardiomyopathy 2o to selenium deficiency, very common in China.
Klippel-Trenaunay- Autosomal dominant chromosomal translocation ® prematurity, hydrops fetalis,
Weber syndrome Hypertrophic hemangioma of leg & Kasabach-Merritt thrombocytopenia.
Klumpke’s paralysis Clawed-hand- lower brachial-plexopathy (C8, T1) affecting ulnar nerve
distributions, often presents with Horner’s syndrome as well
Leigh’s disease Mitochondrially inherited dz ® absent or ¯¯ thiamine pyrophosphate. Infants or
children present with seizures, ataxia, optic atrophy, ophthalmoplegia, tremor.
Congenital defect in HPRT ® gout, urate nephrolithiasis, retardation,
choreiform spasticity & self- mutilation (patients bite off their own fingers &
lips). Mild deficiency ® Kelley-Seegmiller syndrome = gout without nervous
system Si/Sx
Leukocyte adhesion
Type I due to lack of b2-integrins (LFA-1), type II due to lack of fucosylated
glycoprotein (selectin receptors). Both have plenty of neutrophils in blood but
can’t enter tissues due to problems with adhesion & transmigration. Both present
with recurrent bacterial infections, gingivitis, poor wound healing & delayed
umbilical cord separation
Lhermitte sign Tingling down the back during neck flexion, occurs in any craniocervical
Liddle’s disease Disease mimics hyperaldosteronism. Defect is in the renal epithelial
transporters. Si/Sx = HTN, hypokalemic metabolic alkalosis.
Autosomal dominant inherited defect of p53 leading to primary cancers of a
variety of organ systems presenting at an early age.
Maple syrup urine
Disorder of branched chain amino acid metabolism (Valine, Leucine,
Isoleucine). Sx include vomiting, acidosis & pathognomonic maple-like odor of
Overconsumption of red wine ® demyelination of corpus callosum, anterior
commissure & middle cerebellar peduncles. Possible anoxic/ischemic
Marfan’s disease Genetic collage defect ® tall, thin body habitus, long & slender digits, pectus
excavatum, scoliosis, aortic valve dilation ® regurgitation, aortic dissection,
mitral valve prolapse, joint laxity, optic lens dislocations & blue sclera.
Melanosis coli Overzealous use of laxatives cuasing darkening of colon, but no significant dz
Chemical pneumonitis following aspiration of acidic gastric juice, patient
presents with acute dyspnea, tachypnea & tachycardia, with pink & frothy
Meralgia paresthetica A condition common to truckers, hikers & overweight individuals who wear
heavy backpacks or very tight- fitting belts compressing inguinal area. This
causes patients to have a diffuse unilateral pain & paresthesias along anterior
portion of upper thigh, corresponding to lateral femoral cutaneous nerve.
Typically self- limiting, but can treat with steroids for refractory disease
Minamata disease Toxic encephalopathy from mercury poisoning, classically described from fish
eaten near Japanese mercury dumping site.
Poxvirus skin infection causing umbilicated papules, transmitted by direct
contact, often venereal. The central umbilication is filled with semi-solid white
material that contains inclusion bodies & is highly characteristic for the disease
Calcific sclerosis of the media of medium-sized arteries, usually radial & ulnar.
Occurs in people over 50, but it does NOT obstruct arterial flow since intima is
not involved. It is unrelated to other atherosclerosis & does not cause dz.
A factitious disorder in which the pt derives gratification form feigning a serious
or dramatic illness. Munchausen’s by proxy is when the pt derives gratification
from making someone else ill (often a mother injures her child for attention).
Autosomal recessive defect in sphingomyelinase with variable age onset (*
severe dz in younger pt) ® demyelination/neurologic Sx, hepatosplenomegaly,
xanthoma, pancytopenia.
Noonan’s syndrome Autosomal dominant with Sx similar to Turner’s syndrome ® hyperelastic skin,
neck webbing, ptosis, low-set ears, short stature, pulmonary stenosis, AS defect
coarctation of aorta, small testes. Presents in males, X & Y are both present.
Ortner’s syndrome Impingement of recurrent laryngeal nerve by the enlarging atrium in mitral
regurgitation, leading to hoarseness.
Genetic disorder of diffuse bone weakness due to mutations resulting in
defective collagen synthesis. Multiple fractures 2o to minimal trauma = brittle
bone disease. Classic sign = blue sclera, due to translucent connective tissue
over choroid.
Peliosis hepatic Rare primary dilation of hepatic sinusoids. A/w exposure to anabolic steroids,
oral contraceptives & danazol. Irregular cystic spaces filled with blood develop
in the liver. Cessation of drug intake causes reversal of the lesions.
Iron deficiency syndrome with classic triad of esophageal web, spoon nail &
iron deficiency anemia. Web produce dysphagia, will regress with iron
Polycystic kidney
Autosomal dominant bilateral dz, Si/Sx = onset in early or middle adult life with
hematuria, nephrolithiasis, uremia, 33% of cases have cysts in liver, 10-20% of
cases have intracranial aneurysms, hypertension is present in 50% of pts at Dx.
Juvenile version is autosomal recessive, much rarer than adult type; almost all
cases have cysts in liver & portal bile duct proliferation = “congenital hepatic
Poncet’s disease Polyarthritis that occurs DURING active TB infection but no organisms can be
isolated from the affected joints, is thought to b autoimmune-mediated disease
Pott’s disease Tubercular infection of vertebrae (vertebral osteomyelitis) leading to
kyphoscoliosis secondary to pathologic fractures.
Prinzmeteal’s angina Variant angina occurring at rest due to vasospasm, EKG ® ST elevation instead
of depression, Tx = calcium channel blockers.
Refsum’s disease Autosomal recessive defect in phytanic acid metabolism ® peripheral
neuropathy, cerebellar ataxia, retinitis pigmentosa, bone disease & ichthyosis
(scaly skin).
Rett’s syndrome Congenital retardation secondary to * serum ammonia levels, more common in
females. Sx = autism, dementia, ataxia, tremors.
Schafer’s disease Effect in hexosaminidase B, in contrast to the A component of the enzyme that
is defective in Tay-Sachs. Px is better for Schafer’s.
Schindler’s disease Defect in N-acetylgalactosaminidase.
Schmidt’s syndrome Hashimoto’s thyroiditis with diabetes &/or Addison’s disease (autoimmune
Sweet’s syndrome Recurrent painful reddish-purple plaques & papules a/w fever, arthralgia &
neutrophilia. Occurs more commonly in women, possibly due to
hypersensitivity reaction a/w Yersinia infection. Can also be seen in following
URI or along with leukemia. Tx = prednisone, antibiotics if a/w yersinia
Syndrome X Angina relieved by rest (typical) with a normal angiogram. Caused by
vasospasm of small arterioles, unlike Prinzmetal’s angina, which is vasospasm
of large arteries.
Tay-Sachs disease Autosomal recessive defect in hexosaminidase A, causing very early onset,
progressive retardation, paralysis, dementia, blindness, cherry-red spot on macula & death by 3-4yr. Common in Ashkenazi Jews.
Tropical spastic
Insidious lower extremity paresis caused by HTLV, which is endemic to Japan
& the Caribbean, transmitted like HIV, via placenta, body fluids & sex.
Presents with mild sensory deficits, marked lower extremity hyperreflexia,
paralysis, urinary incontinence.
Turcot’s syndrome Familial adenomatous polyposis with CNS medulloblastoma or glioma
Usher syndrome Most common condition involving both hearing & vision impairment.
Autosomal recessive dz ® deafness & retinitis pigmentosa (a form of night
VIPoma = vasoactive intestinal polypeptide overproduction. Leads to pancreatic
cholera, increased watery diarrhea, dehydration, hypokalemia,
Von Recklinghausen’s
Diffuse osteolytic lesions caused by hyperparathyroidism causing characteristic
“brown tumor” of bone due to hemorrhage. Can mimic osteoporosis on x-rays
X-linked recessive defect in IgM response to capsular polysaccharides like those
of S. pneumoniae, but pts have * IgA levels. Classic triad = recurrent pyogenic
bacteria infections, eczema, thrombocytopenia. Bloody diarrhea is often first
Sx, then URIs; leukemia & lymphoma are common in children who survive to
age 10.
Defect in reparif of DNA damage caused by UV light (pyrimidine dimmers).
Patients highly likely to develop skin cancers. Only Tx is avoidance of sunlight.


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