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Holt-O·ram syn·drome(hōlt ō'răm), [MIM*142900]
atrial septal defect in association with fingerlike or absent thumb and other deformities of the forearm; autosomal dominant inheritance, caused by mutation in the T-box5 gene (TBX5) on chromosome 12q.
Farlex Partner Medical Dictionary © Farlex 2012
Holt-Oram syndromeAn autosomal dominant condition (OMIM:142900) characterised by atrial septal defect in association with finger-like or absent thumb and other deformities of the forearm.
Defects of TBX5, which encodes a DNA-binding transcription factor involved in regulating cardiac development and specification of limb identity, cause Holt-Oram syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Holt-Oram syndromeHeart-hand syndrome Molecular cardiology An AD disorder with structural defects of the heart and upper limbs Clinical Upper limb defects may be uni- or bilateral and involve structures of the embryonic radial ray causing aplasia, hypoplasia, fusion and anomalous development of the radial, carpal and thenar bones; defects include triphalangeal or absent thumbs, foreshortened arms and phocomelia; cardiac abnormalities are variably present and are either structural–eg, single or multiple atria, VSD, or functional–eg, bradycardia, various degrees of AV block; other defects in HOS include vertebral, anal, tracheoesophageal, and renal defects
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Holt,Mary, 20th century English cardiologist.
Holt-Oram syndrome - atrial septal defect in association with fingerlike or absent thumb and other deformities of the forearm.
Oram,Samual, 20th century English cardiologist.
Holt-Oram syndrome - see under Holt, Mary
Medical Eponyms © Farlex 2012