Autosomal Dominant Disorder

Autosomal Recessive Disorder

X Linked Recessive Disorder

X Linked Dominant Disorder

Mnemonic Very Powerful DOMINANT Humans V - Von willibrand / Von hippel lindau P - Pseudo hypoparathyroidism D - Dystrophia myotonica O - Osler weber rendu / Osteogenesis imperfecta M - Marfans syndrome I - Intermittent porphyria N - Neurofibramatosis type 1 A - Achondroplasia / Adult polycystic kidney disease N - Noonans syndrome T - Tuberous sclerosis H - Hypercholesterolemia H - Huntington's disease H - Hypertrophic obstructive cardiomyopathy H - Heriditary sphaerocytosis H - Heriditary non polyposis coli
Osler weber rendu is Heriditary hemorrhagic Telengiectasia Kallmann syndrome is AD

Mnemonic A---- albinism ,alpha 1 antitrypsin deficiency, alkaptonuria B-----beta thalassemia C-----Cystic fibrosis,Chédiak Higashi syndrome,CAH D-----deafness(SNHL), dubin johnson E-----enzyme deficiencies (glycogen storage and lysosomal storage) F------friedrich's ataxia, fanconi anemia G-----galactosemia,gauchers H------hemochromatosis S----sickle cell disease P----phenylketonuria W-----wilson's X ----- Xeroderma pigmentosum Enzyme deficiencies that are X linked 1. OTC deficiency 2. Fabrys disease (Lysosomal) 3. Hunters

Mnemonic "Less HCG is Detected Clinically in A Fragile Woman" L - Lesh nyhan H - Haemophilia/Hunters syndrome C - Chronic Granulomatous disease G - G6PD deficiency D - Duchene muscular dystrophy/ Diabetes Insipidus C - Colour Blindness A - Agammaglobulinemia (Bruton) F - Fragile x syndrome, Fabrys disease W - Wiskott aldrich syndrome

Alports syndrome Vitamin D resistant Rickets Blood group XG Incognito Pigmenti GO IN a CHILDS HAPPy Face Goltz syndrome Incognito pigmenti child syndrome Happel form of Punctate Chondrodysplasia Oral facial digital syndrome Special ones to remember 1. Rett's syndorme

(Be Wise, Fools GOLD Heeds Silly Hope ) B Bruton's agammaglobulinemia W Wiskott-Aldrich syndrome F Fabry's syndrome G G6PD deficiency O Ocular albinism L Lesch Nyhan syndrome D Dystrophy (Duchenne's, and Becker's) H S (Hunter's Syndrome) H Hemophilia A & B

Anuraj MS GMC TVM

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