Presentation
Entire Body System
- 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]
- 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
- 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]
- 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]
- 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
- 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]
- 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]
- 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]