Compilation of Important Medical Syndrome

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Syndromes
  Remarks
1.         Anton’s syndrome (cortical blindness) ·          Refusal to accept blindness
2.         Alagille syndrome ·          Bile duct paucity

·          ASD

·          Pulmonary stenosis

3.         Anderson disease ·          K+ – channelopathy
4.         Algrove syndrome ·          AAA – syndrome

·          Alacrimia

·          Adrenal insufficiency

·          Achalasia

5.         Aicardi syndrome ·          Absent Corpus Callosum

·          Retinal defects

·          Infantile spasms

6.         Alport’s syndrome Anti-alpha 5 of NC (collagen-IV)

a.        Sensorineural hearing loss

b.        Glomerulonephritis  with gross hematuria & ESRD

c.        Lenticonits,Keratoconus

7.         Asperger’s syndrome ·          Autistic disorder
8.         Alstorm syndrome ·          Hypogonadism

·          Degen­eration of retina

·          Deafness

·          Diabetes Mellitus

·          Obesity

9.         Angelman syndrome ·          Genomic-imprinting of maternal Chr – 15

·          Happy puppets

10.      Beckwith Wiedemann syndrome ·          Hemihypertrophy

·          Mac­roglossia

·          Wilms tumour

·          Organomegaly

·          Omphalocele

11.      Bardet Biedl syndrome Barrett/Prune Eagle belly syndrome ·          Craniosynostosis

·          Radial aplasia

·          Renal ectopia/agenesis

12.      Bardet Biedl syndrome ·          Obesity

·          Retinitis pigmentosa

·          Polydactyly

·          Hypogonadism

·          Renal failure

13.      Biswanger disease ·          Subcortical vascular dementia due to white matter atrophy

 

14.      Barter’s syndrome ·          Defect in TAL of Loop of Henle

a.        Symptoms similar to parient on Furosemide

b.        Hypokalemia, Alka­losis, Hypercalcemia, Nephrocalcinosis

15.      Best’s disease ·          Macular dystrophy
16.      Brunett syndromec ·          Chronic milk – Alkali syndrome
17.      Bannwarth syndrome ·          Lyme’s disease —> first radicular pain

·          Then meningeal leukocytosis

18.      Brugada syndrome ·          Polymorphic VT

·           Na+ channel disorder

19.      Balint’s syndrome ·          Occulomotor apraxia

·          Optic ataxia

·          Simultagnosia

20.      Brown Sequard syndrome ·          Hemitransection of spinal cord
21.      Bernard – Souther syndrome ·          Platelet adhesion defect

·          Deficient gpIb

·          Thrombo­cytopenia

·          Giant platelets

22.       Brill Zinsser disease ·          Recrudescent epidemic typhus

(Ricketssia prowa­zekii)

23.      Byler disease ·          Progressive familial in­trahepatic cholestasis – I (PFIC-1)
24.      Bloch Schullberger disease ·          Incontinentia pigmenti
25.       Bowen’s disease ·          Intra epidermal carcinoma in situ
26.      Budd Chiari syndrome ·          Post hepatic venous thrombosis
27.       Blount disease ·          Slipped capital femoral epiphysis
28.       Becker disease ·          Autosomal recessive – chloride chamnelopathy
29.       Brinton disease ·          Linitis plastica / Leather bottle stomach
30.      Buerger’s diseasec ·          TAO (Thrombo Angitis Obilerans)
31.      Berger disease ·          IgA nephropathy
32.       Burn-out syndrome ·          Feeling of dissatisfaction in doctor (while treating of terminally ill cancer patient)
33.      Barlow syndrome ·          MVP – floppy valve syndrome = click valve syndrome = Tumour plop syndrome
34.       Bourneville’s disease ·          Tuberous sclerosis
35.       Castleman disease ·          Hypersecretion of IL-6

·          Hyper proliferation of B-cells Iglevels

·          Associated with HHV-8

36.      Charles Bonnet syndrome ·          Old patient with vi­sual hallucinations with decreased no psychosis / No delirium

 

37.      Capgras syndrome ·          One person replaced by 2nd person – imposter
38.      Cotards syndrome ·          Nihilism
39.      Caroli’s disease ·          Intrahepatic dilatation Type V choledochal cyst (central dot sign)
40. Claude syndrome ·          III nerve palsy on oneside

·          with asynergia on other side with dysarthria

41.      Cockayne’s syndrome ·          Cock like face (Involvement of nervous system) pigmentary retinopathy

·          Deafness

·          Mental retardation

42.       Chediak – Higashi syndrome ·          Defect in platelet granules

·          Defective phagolysosome

·          Albinism

·          CNS defects

·          Defective chemotaxis

43.      Cafey’s disease ·          Mandibular osteomyelitis
44.      Caffeys syndrome ·          Battered baby syndrome
45.      Caissons disease ·          Decompression sickness/compressed air illness also known as Bends disease
46.      Conn’s disease ·          Primary hyperaldosteronism. Due to adrenal hyperplasia aldostrone -producing adrenal adenoma /disorders in Renin -angiotensin system

 

47.      Carpal Tunnel syndrome ·          Median nerve compression

 

48.      Carpenter’s syndrome ·          Poly syndactyly

·          Mental retardation

·          Craniofacial malformations

·          Obesity (acrocephalo poly syndactyly)

49.       Cohen syndrome ·          Short and obese

·          Microcephaly

·          Mental retardation

·          High vaulted palate

50.       Cowden syndrome ·          P-TEN gene mutation

·          Multiple hamartomatous GIT polyp syndrome

51.       Crouzon’s disease ·          Cranio synostosis
52.       Carney complex

NAME syndrome

·          N – Naevi

·          A – Atrial myxoma

·          M – Myxoid Neurofibroma

·          E – Endocrine overactivity

53.       Coat’s syndrome ·          Retinal dysplasia
54.       Declermbault’s syndrome ·          Erotomania

 

55.       Denys – Drash syndrome ·          Gonadal Dysgenesis

·          Dif­fuse mesangial sclerosis

·          Wilms tumour

56.       Darling’s disease ·          Ohio-Valley disease – Pumonary histoplasmosis

·          Ocular histoplasmosis

·          Sinusitis

57.       Dents disease ·          Cause of Fanconi syndrome

·           Proteinuria

·          Hyper­calcuria nephrocalcinosis

·          Nephrolithiasis

58.       Del Castilo disease ·          Sertoti cell- only syndrome

·          No sperms (castrated)

59.       Diamond Black Fan syndrome ·          Congenital PRCA (Pure Red Cell Aplasia)
60.       Diamond Schwanbach syndrome ·          Neutropenia

·          Metaphyseal  dysplasia

·          Pancreatic insufficiency

61.       DIDMOAD disease ·          DI   – Diabetes inspidus

·          DM – Diabetes mellitus

·          OA  – Optic atrophy

·          D – Deafness

62.      Duane syndrome ·          DU -Dual vision – Diplopia

·          AN – Abducent Nucleus defects

63.       Diege Potter syndrome ·          HGH secreting fibromafrontal disinhibition
64.      Dupuytren disease ·          Palmar fibromatosis
65.      Dhat syndrome ·          Premature ejaculation

·          Patient believes that he is passing semen in urine

66.      Dieulfoy disease ·          Large tortuous arteriole in submucosa of stomach which erodes and bleeds causing massive upper GI bleeding
67.      Dowling Degas disease ·          Autosomal dominant reticular pigmentation + palmar pitting
68.       Democles syndrome ·          Fear of relapse of cancer
69.      Devics disease ·          Neuromyelitis optica à Bilateral optic neuritis + Transverse myelitis
70.      Degerine – Roussy syndrome ·          Hemiparesthesia / dysas­thesia following thalamic stroke
71.      Degerine – Sotta syndrome ·          Charcot Marie tooth disease Type-III
72.      Dressler syndrome ·          Chronic pericarditis follow­ing MI (autoimmune)
73.      Evan’s syndrome ·          Warm (IgG) Autoimmune Hemolytic Anemia

·          ITP

74.      Ekbom syndrome ·          Restless leg syndrome
75.      Eosinophilia – myalgia syndrome ·          L-tryptophan (defective

·          L-tryptophan ingestion) flu like neurological condition

·          Eosiophilia

76.      Fregoli syndrome ·          Stranger is felt as familiar person
77.      Foville’ssyndrome ·          7th nerve + 6″ nerve palsy + contralateral hemiparesis

·          Hemisensory loss

78.      Forrestier syndrome ·          Ankylosing hyperostosis, DISH (Diffuse Idiopathic Skeletal Hyperostosis)
79.      Frohlich syndrome ·          Obesity

·          Growth retarda­tion

·          Gonadal hypoplasia

·          Visual disturbances

80.      Frey’s syndrome ·          Gustatory sweating
81.      Froin syndrome ·          Xanthochromia
82.      Frasier syndrome ·          Gonadal dysgenesis + Renal dysfunction
83.      Fanconi’s syndrome ·          Renal tubular acidosis.

·          Type II (Proximal convoluted tubule)

84.      Fanconi’s anemia ·          Defect in post replica­tion DNA repair

·          Aplastic anemia, absent radius

·          Increased risk of myelodys­plastic syndrome & AML

85.      Gorlin’s syndrome ·          PTCH gene à Nevoid basal cell carcinoma
86.      Gerstmann syndrome ·          Dysgraphia / Agraphia + Dyscalculia / Acalculia + Finger agnosia + Left Right disorientation
87.      Grey Platelet syndrome ·          Platelets with no granules (Ghost platelets)
88.      Gi-T-elman syndrome ·          Defect in Na+C/- transporter in DCT

·          Effects like that of T-hiazide diuretics.

89.      Gilliespie syndrome ·          Autosomal recessive

·          Pig­mentary retinopathy

90.      Guyon canal syndrome ·          Ulnar nerve compression
91.      Gais – Bock syndrome ·          Stress – relative polycythe­mia
92.      Gardner syndrome ·          Seen in prison inmates (gangsters) as an attempt to gain leniency from pris­on
93.       Gorham syndrome ·          Vanishing bone disease
94.      Gardner syndrome ·          Polyps

·           Osteomas

·          Epidermoid cysts + Lipomas

·          Periampullary carcinoma

95.      Gull’s disease ·          Myxedema
96.      Grawitz tumour ·          Renal cell carcinoma
97.      Goldenhar syndrome ·          Limbal dermoids + Preauricular tags + eve lid deformation
98.  Haw River syndrome ·          Dentato Rubro Pallido Luysian Atrophy

·          Atrophin gene (Spiro cerebellar ataxia)

99.      Heriditary Branchial Neuritis ·          SEPT 9 gene on Chr.17. syn drome

·          Bilateral shoulder pain due to neuritis

100.  Hinman syndrome ·          Most severe form of dys­functional voiding
101.  Holiday Heart syndrome ·          Alcoholic cardiomyopathy with atrial fibrillation

·          Atrial flutter

·          Ventricular premature contractions

102.  Holt Oram syndrome ·          ASD

·          Right sided limb ab­normalities

103.  Hypogonadism due to ·          GnRH resistant ovary + (Savage syndrome) hypothalamic causes (Kallman syndrome)

·          (i) Hypopituitarism – Sim­monds/ Chiari Frommet syndrome

104.  Hayde’s syndrome ·          Aortic stenosis + Angio dysplasia of gastric mucosa
105.  Hallervorden Spatz dis­ease(HSD) ·          Autosomal recessive

·          PANK 2 gene

·          Dementia

·          Globus pallidus degeneration (extra pyramidal symptom)

·          Eye of tiger appearance

106.  Hamman Rich syndrome ·          Acute interstitial pneumonia
107.  Heerfordt’s syndrome Sarcoidosis

a.        Facial paralysis

b.        Parotitis

c.        Uveitis

108.  Irvine gass syndrome ·          After cataract [following ECCE]
109.  Issac syndrome ·          Neuromyotonia (paraneoplastic  syndrome)
110.  John syndrome ·          Juvenile (myoclonic) epilepsy
111.  job syndrome ·          Same as Wiskott – (Aldrich) syndrome hyper IgE syn­drome à Eczema + Infection +Immuno compromised state = cold abscesses and furuncles
112.  Jansen syndrome ·          Dwarfism + Ca2+ metabolic
113.  Kennedy syndrome ·          Spinobulbar muscular atrophy  Mutation in Androgen Recaptor (AR) gene

 

114.  Kartagener syndrome Ciliary dysmotility

i.            S – Sinusitis

ii.            B- Bronchiectasis

iii.            I-  Inversus situs

115.  Kasabach – Merrit syndrome ·          Giant hemangiomas

·          Localized Intravascular coagu­lation

·          Thrombocytopenia

·          Microfibrinogenemia

116.  Kearns Sayre syndrome ·          Chronic progressive external ophthalmophagia (CPEO)

·          Heart blocks

·          Retinitis pig­mentosa

117.  Kluver Bucy syndrome ·          Amygdala lesionsà hyper­phagia hypersexuality
118.  Kikuchi disease ·          Histiocytic necrotizing lymphadenitis
119.  Kimura disease ·          Painless unilateral inflamma­tion of cervical lymphnodes (on subdermal lesions in head and neck)
120.  Klippel Trenaunay syndrome ·          Portwine stains

·          Excess growth of bones and soft tissues varicose veins

121.  Klippel Feil syndrome ·          Fused cervical vertebrae short neck decreased neck movements low hairline
122.  Kallman syndrome ·          Decreased GnRH àhypogonadism micropenis, involvement of olfactory bulb à Anosmia mutations in KAL gene / FGFR gene
123.    Kostrnann syndrome ·          Congenital neutropenia
124.  Korsakoff Mayer syndrome ·          Polyarteritis nodosa (PAN)
125.  Kleine Levin syndrome ·          Hypersomnolence

·          Hyper­phagia, apathy

·          Hypersexuality

126.  Keshan syndrome ·          Dietary deficiency of Selenium & presence of mutated strain of coxsackie viruscongestive cardiomyopathy
127.  Lawrence Moon Biedel syndrome ·          Mental retardation

·          Obesity

·          Hypogonadism

 

128.    Lambert Eaton Myaesthenic syndrome (LEMS) Autoantibodies against presynaptic Ca+2 Channels in NMJ

I.            60% cases syndrome (LEMS) paraneoplastic

II.            proximal muscle weak­ ness, weakness of Bulbar muscles

129.  Lhermitte Duclos syndrome ·          Purkingeoma of Cerebellum

 

130.  Lennox Gastaut syn­drome ·          Multiple seizures

·          Slow spike EEG (< 3 hz)

·          Psychomotor development & Behavioral disorders

131.  Lowe’s disease ·          Oculo cerebro renal syndrome
132.  Leventhal Steil syndrome ·          PCOD
133.  Lutembacher syndrome ·          ASD (congential) + Mitral stenosis(acquired)
134.  Loefler’s syndrome ·          Visceral / Cutaneous larva migrans
135.  Lyme’s disease ·          Tick borne disease due to Borrelia burgdorferi

·          Bull’sb eye rash

·          Erythema migrans

·          Borrelial lymphocytoma

·           Neurological: Headache

·          Meningitis

·          Encephalitis

136.  Leigh syndrome ·          Mutations in mitochondrial

·          DNA Subacute Necrotising Encephalo Myelopathy (SNEM)

137.  Leiner disease ·          Seborrheic dermatitis, diar­rhoea,

I.            Failure to thrive (Infantile dermatitis)

138.  Leopard syndrome ·          L àLentigenes

·          Eà Ecg abnormalities – Bundle Branch Block

·          Oà Ocular hypertelorism

·          PàPulmonary stenosis

·          AàAbnormal genitalia (cryptorchidism)

·          RàRetarded growth

·          DàDeafness(sensorineural)

 

139.  Laron syndrome ·          GH receptor resistance (GH Growth Hormone)
140.  Lemierre’s disease ·          Fusobacter

·          Sore throat

·          Swollen painful neck (cervical lymphadenopathy)

·          Lung abscess

·          Pleuritic chest pain

·          Arthralgia / arthritis

 

141.  Lucey – Driscol syn drome ·          Transient familial neonatal

·          Hyperbilirubinemia

 

142.  Ledderhose syndrome ·          Plantar fibromatosis
143.  Loefler’s Cardiomyopathy ·          Eosinophilic cardiomyopathy

 

144.  LAMB syndrome ·      L àLentigenes

·      A àAtrial myxoma

·          M à Myxomas (muco cutaneous)

·          B à Blue Nevi

 

145.  Leri’s dieases ·          Melorheosteosis
146.  Lynch syndrome ·          HNPCC
147.  Lawn Ganong Levine syndrome ·          Similar to WPW syndrome

·          (AV nodal reentant tachy­cardia) Short P-R interval

·           But – Normal QRS complex  Absent delta waves

148.  Lermoyezsyndrome ·          Variant of Meniere’s disease

·          Deafness followed by Vertigo followed by Tinnitus

149.  Louis Bar syndrome ·          Ataxia Telangectasia
150.  Lou Gehrig’s disease ·          Amyotrophic Lateral sclerosis (ALS)
151.  Machado Joseph disease ·          Spinocerebellar ataxia – 3 (SCA – 3) Ataxin gene
152.  Marion’s disease ·          Muscular hypertrophy and Stenosis of bladder neck
153.    Miller Fischer syndrome ·          Variant of Guillian Barre syndrome Triad of Ataxia

·          Areflexia & Ophthalmoplegia

154.  Millard Gubler syndrome ·          Ventral Pontine syndrome Infra nuclear palsy of VI & VII Cranial nerves & Disruption of corticospinalt Tact “crossed Hemiplegia”
155.  Munchaussen syndrome ·          Factitious à Washboard abdomen Professional patient syn­drome
156.  Meig’s syndrome ·          Ovarian tumor / Fibro­ma+ Ascites + Pleural effusion (Rt)
157.  Meige syndrome or Brueghel syndrome ·          Oromandibular dystonia

·          Blepharospasm

158.    Mandelson’s syndrome ·          Aspiration pneumonitis
159.  Menke’s Kinky Hair Syndrome ·          Ehler Danlos syndrome Type 9 affects copper levels in body leading to copper deficiency
160.  Meckel Gruber syndrome ·          Renal cystic dysplasia + CNS+ Polydactyly + Pulmonary (hypoplasia)
161.  Maza Braud syndrome ·          Polyostotic fibrous dysplasia (FD) Soft myxomas
162.  Mallory Weiss syn­drome ·          Due to Binge drinking.

·          Tear at Cardia à Squamo columnar junction

163.  Mauriac syndrome ·          Poorly controlled diabetes mellitus in children in chil­dren with hepatomegaly + cushingoid habitus
164.  Menetrier’s disease ·          Hyperrugosity of gastric folds

·          Increased mucous secreting cells

·          Hypoproteinemia à Edema Parietal cells replaced by mucus se­creting cells

·          So hypochlorhydria / Achlorhydria

165.  Meniere’s disease ·          Tinnitus à Vertigo Achlorhydria à Deaf­ness

 

166.  Mirizzi syndrome ·          Stone in Hartmann pouch of gall bladder
167.  Melkersson Rosenthal syndrome ·          Recurrent facial nerve pa­ralysis + Fissured tongue + Fissured lips
168.  Micheal’s aplasia ·          Cochlear turn Only 1/3rd
169.  Mondor’s disease ·          Superficial thrombophlebitis of chest /Breast /Abdomen
170.  Monge’s disease ·          Chronic mountain sickness
171.  Mayer – Rokitansky Kuster Hauser syn­drome ·          No Mullerian duct

·          So no uterus

·          No fallopian tubeb

172.  Mikulicz disease ·          Sjogren’s syndrome (Kerato­conjunctivitis sicca)
173.  McCune Albright syndrome ·          Polyostotic fibrous dysplasia

·          Unilateral Cafe-au-Lait spots

·           Precocious puberty

174.  Mounier Kuhn diseas ·          Idiopathic bronchiectasis
175.         McLeod syndrome ·          Unilateral hyperlucent pleu­ral effusion
176.         Noonan syndrome ·          Male variant of Turner’s syndrome + Pulmonary stenosis + Mental retardation
177.         Nut Cracker syndrome ·          Beaded Lt-ureter due to kink­ing of Lt. Renal vein between aorta and superior mesenteric artery
178.         Nelson syndrome ·          Rapidly enlarging ACTH producing pituitary adenoma following bilateral adrenalectomy
179.         Nail Patella syndrome ·          (Hood syndrome) Small poor­ly developed nails

·          Hypo plastic patella

·          Multiple bony exostosis

180.         Naxos disease ·          Arrhythmogenic right ven­tricular cardiomyopathy

·          Hyperkeratosis

·          Wooly hair

 

181.    Nezelof syndrome ·          Thymic dysplasia à Immu­nosuppresion
182.    Ormond’s syndrome ·          Idiopathic retroperitoneal fibrosis
183.    Ogilive’s syndrome ·          Idiopathic/ Pseudo subacute  intestinal obstruction

 

184.    Ortner’s syndrome ·          RLN palsy due to dysphagia lusoria
185.    Ollier’s disease ·          Multiple enchondromas
186.    Othello’s syndrome ·          Delusional jealous about spouse (infedility)

 

187.    Osler Weber Rendu dis­ease ·          Heriditary Hemorrhagic Tel­angiectasia
188.    Prader With syndrome ·          Genomic imprinting due to deletion of paternalchromo some à 15 Short stature

·          Hyperphagia

·          Obesity

·          Mental retardation, sleep disorders

189.    Potter’s syndrome ·          Bilateral renal agenesis + Fa­cial abnormalities
190.    Parinaud’s syndrome ·          P – Posterior commisure (Dorsal midbrain)

·          A – Aqueductal stenosis

·          R – Retracted eyelids

·          I – Ischemia (CVA)

·          N – Nystagmus on conver­ gence

·          AU – Absent upgaze

·          D – Downward eye gaze / dorsal midbrain

191.    Progressive Supranucle­ ·          Steel Richardson Olezewski syndrome Frequent falls Vertical supranuclear gaze palsy
192.    Pearson syndrome ·          Bone marrow failure Pancreatic fibrosis (Exocrine pancreatic insufficiency insulin dependent Diabetes mellitus
193.    Posner Schlossman syndrome ·          Glaucomato cyclitic crisis
194.    Peyronie’s disease ·          Penile fibromatosis
195.    Poland syndrome ·          Congenital absent pectoralis major
196.    Pendred syndrome ·          B/L SNHL + Thyroid dys­function
197.    Crow Fukase syndrome ·          POEMS syndrome

·          P – Polyneuropathy

·          O – Organomegaly

·          E – Endocrinopathy

·          M – Multiple myeloma

·          S – Skin changes (hyperpig­mentation, hyperachosis)

198.    Pierre Robins syndrome ·          Retrognathia + Cleft palate + Mental retardation
199.    Post cardiac injury syndrome ·          Following trauma
200.    Pick’s disease ·          Fronto temporal dementia
201.    Rosai Dorfmann syndrome ·          Sinus histiocytosis with massive lymphadenopathy

·          Autoimmune hemolytic anemia

202.    Refsum’s disease ·          Accumulation of phytanic acid

·          Ataxia

·          Peripheral neuropa thy

·          Deafness, cataracts

203.    Rothmund syndrome ·          Osteosarcoma

 

204.    Runt disease ·          Graft v /s Host disease (in animals)
205.    Riley Day syndrome ·          Familial dysautonomia Heriditary sensory autonomic neuropathy Type HI (HSAN- III)
206.    Rochon Duvigneaud ·          Superior Orbital Fissure syn­drome (palsy of III, IV, V, VI cranial nerves)
207.    Rett’s disease ·          X linked dominant

·          Reversal of milestones

·          Loss of skills

208.    Ramsay Hunt syndrome ·          Zoster infection (reactivation) Facial nerve palsy + Vesicular rash in external auditory canal
209.    Robertson syndrome ·          Metabolic syndrome Hypertension

·          Hyperglyce­mia

·          Hypercholesterolemia syndrome (partial)

210.    Reader’s syndrome ·          Cluster headache
211.    Rose Gardner’s disease ·          Sporotrichosis
212.    Reifenstein syndrome ·          Androgen insensitivity
213.    Steele Richardson Olszewski syndrome ·          Progressive supranuclear palsy
214.    Stokes Adams syndrome ·          Syncopal attacks due to asys­tole

·          Heartblocks and ventricular fibrillation

215.    Stills disease ·          Juvenile idiopathic arthritis + Anterior uveitis
216.    Swift’s disease ·          Acrodynia / Pink disease
217.    Sunset syndrome ·          Subluxation of IOL following cataract surgery
218.    Stewart Treeves syndrome ·          Ca’Breast à Lymphedema à Lymphosarcoma
219.    Stachart syndrome ·          Dermatitis +
220.    Schimdt syndrome ·          Polyglandular autoimmune syndrome (on Autoimmune polyendocrine syndrome Type II)
221.    Sheehan syndrome ·          Pitutary apoplexy in puerperium
222.    Stauffer syndrome ·          Paraneoplastic syndrome in RCC

·          Abnormal liver enzymes with no liver abnormality

223.    Stickler syndrome ·          Connective tissue disorder affecting collagen.

·          Features of Pierre Robin syndrome are seen

·          Along with ocular hypertension

·          Cataracts

·          Deaf­ness

224.    Stiffman syndrome ·          Paraneoplastic syndrome in Ca-breast

·          Ca –stomach

225.    Stiff baby syndrome ·          Hypertonia in infant
226.    Sweet syndrome ·          Paraneoplastic syndrome in Ca-pancreas (neutrophilic dermatitis)
227.    Savage syndrome ·          GnRH resistant ovary
228.    Simmonds Chiari Frommet syndrome ·          Hypopituitarism
229.    Smith Lerril Opilz syn­drome ·          Adrenal insufficiency
230.    Senior Loken syndrome ·          Juvenile nephronophthisis + retinitis pigmentosa
231.    Scimitar syndrome ·          TAPVC / PAPVC + Dextrocardia + Hypoplasia of right lung
232.    Sezary syndrome ·          Erythroderma in mycosis fungoides (CTCL)
233.    Shoulder hand syndrome ·          Complex Regional Pain syn­dromes (CRPS)
234.    Straight back syndrome ·          Loss of curvature of spine + Mitral valveprolapse
235.    Swyer syndrome ·          XY genotype with female external genitalia no testes

·          No mullerian inhibiting factor

·          No testosterone

·          No estrogen

236.    Sampter’s disease ·          Central visual field defects in children
237.    Shy Drager syndrome ·          Parkinson disease with mul­tiple system atrophy
238.    Tourette syndrome ·          Coprolalia (Obscene utter­ings)
239.   Terson syndrome ·          Vitreous hemorrhage + Subarachnoid hemorrhage
240.    Tarsal tunnel syndrome ·          Autosomal dominant Chlo­ride channelopathy
241.    Turcot’s syndrome ·          Polyps (colon) + Brain tumours (Optic nerve gliomas / Glioblastoma multiforme)
242.    Trotter traid 3F’s ·          Fixation of ossicles (conductive hearing loss)

·          Fixed soft palate

·          Facial pain

243.    Treacher Collin syndrome ·          Mandibulo facial dysgenesis (absent cheek bones, micro­gnathia) Malformed / Absent Ears

·          Conductive hearing lossc

·          Coloboma of lower lid

244.    Tako Tasubo cardiomyopathy ·          Stress cardiomyopathy
245.    Tullio’s crisis ·          Drop attacks (vertigo on loud sounds) in Meniere’s disease
246.    Tumarken crisis ·          Loss of linear motion in Me­niere’s disease

·          Sudden falls – indicates se­verity

247.    Trosseau syndrome ·          Severe unilateral headache with painful ophthalmople­gia
248.    Usher’s syndrome ·          SNHL + Retinitis pigmen­tosa (Sensori Neural Hearing Loss
249.    UGH syndrome ·          Uveitis – Glaucoma – Hy­phema
250.    Vander Woude syndrome ·          Autosomal dominant

·          Cleft lip

·          Cleft palate

·          Pits & mucous cysts on lower lip

·          Absent 2nd premolars

·          Bifid uvula

251.    Von Gogh disease ·          Self mutilating type of Schizophrenia
252.    Vander Hoove syndrome ·          Osteogenesis imperfect

·          Otosclerosis

·          Blue sclera

253.    Verner Morrison syn­drome ·          VIP – oma (somatosta tin o ma)
254.    Vanishing Bile Duct syndrome ·          Transplant idiopathic sarcoidosis
255.    Vanishing testis syndrome ·          Bilateral anorchia
256.    Vanishing twin ·          Fetus papyraceus
257.    Weaver syndrome ·          Growth retardation

·          Facial defects

·          Omphalocele

258.    Webers syndrome ·          Contralateral hemiparesis Ipsilateral ophthalmoplegia (III CN)
259.    Wallenberg syndrome Lateral medullary syndrome

1.        Infarction of “PICA”

2.        Loss of sensations in op­posite side of trunk, same side of face

260.    Wolman’s disease Lipid storage disease

1.        Lipa gene

2.        Bilateral adrenal calcifica­tion

261.    William’s disease ·          Chr. 7

·          Mutation in elastin gene Elfine facies

262.    Wilson’s disease ·          ATP – 7B deficiency

·          Deficiency in copper trans­ port (Hepato-Lenticular degeneration)

263.    Werdnig Hofman dis­ease ·          Spino muscular atrophy – I (LMN)
264.  Wohlfart Kugelberg We­lander syndrome ·          Spino muscular atrophy – III ­Juvenile
265.    Wolf Parkinson White syndrome ·          Accessory conducting path­way between atria and ven­tricles.
266.    Wiscott Aldrich syndrome ·          WiskhotàFever Aldritch à Eczema àáIgE levels
267.    West’s syndrome ·          Infantile spasms

·          Mental retardation

·          Hypsarrhythmia

268.    Weil Marchesani syndrome ·          Inferior subluxation of Lens
269.    Waterhouse-Friderichsen syndrome ·          In meningococcemia

·          Acute fulminating adrenal insufficiency

270.    Witzel sucht syndrome ·          Pathological joking in frontal lobe affection
271.    Young’s syndrome ·          Sinusitis, Nasal polyps

·          Bronchiectasis

·          Azo­ospermia

 

 

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