Presentation
Entire Body System
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Short Stature
From Wikipedia, the free encyclopedia Jump to navigation Jump to search Berk–Tabatznik syndrome Other names Kyphosis brachyphalangy optic atrophy Berk–Tabatznik syndrome is a medical condition with an unknown cause that shows symptoms of short stature [en.wikipedia.org]
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Atrial Septal Defect
The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block. [6] Heart-hand syndrome type 2 [ edit ] Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome. [ citation needed ] Berk–Tabatznik [en.wikipedia.org]
Cardiovascular
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Heart Disease
It has been claimed that congenital heart diseases are caused by a limited number of shared genetic defects. [1] Holt–Oram syndrome, Brachydactyly-long thumb syndrome, Patent ductus arteriosus-bicuspid aortic valve syndrome and Heart-hand syndrome, Slovenian [en.wikipedia.org]
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Heart Block
The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block. [6] Heart-hand syndrome type 2 [ edit ] Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome. [ citation needed ] Berk–Tabatznik [en.wikipedia.org]
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Tachycardia
It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with mild hand involvement and more severe foot involvement. [10] Brachydactyly-long thumb syndrome [ edit ] Described in one family [en.wikipedia.org]
Musculoskeletal
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Hand Deformity
"Hand Deformities and Heart Problems: A Case Report". www.consultantlive.com. Retrieved 25 July 2016. Helton, Kathleen (1993). "Heart-hand syndrome, type 1". TheFetus.net. Retrieved 25 July 2016. RESERVED, INSERM US14 -- ALL RIGHTS. [en.wikipedia.org]
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Metacarpal Hypoplasia
Hand anomalies include metacarpal hypoplasia. [12] Genetics [ edit ] It is unknown if heart-hand syndromes are caused by shared or distinct genetic defects. [en.wikipedia.org]
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Brachydactyly
It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with mild hand involvement and more severe foot involvement. [10] Brachydactyly-long thumb syndrome [ edit ] Described in one family [en.wikipedia.org]