loading...| Preferred Name |
Heart-hand syndrome, Slovenian type |
|
| Synonyms |
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome |
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| Definitions |
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_168796 |
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| alternative_term |
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome Atriodigital dysplasia, Slovenian type |
|
| definition |
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 |
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| has_age_of_onset |
Adult |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:610140 ICD-10:Q87.2 MeSH:C535852 UMLS:C1857829 ICD-11:LD2F.1Y |
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| label |
Heart-hand syndrome, Slovenian type |
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| notation |
ORPHA:168796 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_228184 http://www.orpha.net/ORDO/Orphanet_217619 |
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| prefixIRI |
ORDO:Orphanet_168796 |
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| prefLabel |
Heart-hand syndrome, Slovenian type |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 14.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_228184 http://www.orpha.net/ORDO/Orphanet_217619 |
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| subClassOf |