Heart-hand syndrome type 2
Synonyms: Atriodigital dysplasia type 2 | Tabatznik syndrome
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date that is characterized by upper limb malformations (brachytelephalangy type D hypoplastic deltoids mild shortening of the fourth and fifth metacarpals in some individuals skeletal anomalies in the humerus radius ulnae and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Heart-hand syndrome type 2?
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Advocacy Organizations
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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