Which of the following diseases is autosomal dominant?
Correct Answer: Tuberous sclerosis
Description: Tuberous sclerosis is an autosomal dominant (AD) disorder. Note: All Ehler-Danlos syndrome types are Autosomal Dominant, except types V,VI, and VII All types of osteogenesis imperfecta are Autosomal Dominant, except types II, III and VII Autosomal Dominant Disorders: Achondroplasia Von Willebrand disease Pseudohypoparathyroidism Dystrophia myotonica Osteogenesis imperfecta Marfan syndrome Intermittent porphyria Neurofibromatosis Adult polycystic kidney disease Noonan syndrome Tuberous sclerosis Hypercholesterolemia(Familial) Huntington&;s disease Hereditary spherocytosis Hyperophic obstructive cardiomyopathy Hereditary non-polyposis coli Hereditary hemorrhagic telangiectasia Ref: Nelson textbook of Pediatrics 21st edition Pgno: 3144
Category:
Pediatrics
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