Heart-hand syndrome, Slovenian type

Orpha code: 168796OMIM code: 610140

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Atriodigital dysplasia, Slovenian type
Choroba przewodzenia w sercu - kardiomiopatia rozstrzeniowa - brachydaktylia
Dysplazja przedsionkowo-palcowa, typ słoweński
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
Kod ORPHA
168796
Kod OMIM
610140
Kod ICD10
Q87.2
Kod ICD11
LD2F.1Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl