Heart-hand syndrome, Slovenian type

General Information (adopted from Orphanet):

Synonyms, Signs: Atrio-digital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly
Number of Symptoms 14
OrphanetNr: 168796
OMIM Id: 610140
ICD-10: Q87.2
UMLs: C1857829
MeSH: C535852
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 1 of 100 000
Inheritance: Autosomal dominant
18611980 [IBIS]
Age of onset: Adult
15996213 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease
Heart-hand syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndrome associated with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001159) Syndactyly 15996213 IBIS 140 / 7739
2
 (HPO:0010239) Aplasia of the middle phalanx of the hand 15996213 IBIS 3 / 7739
3
 (HPO:0001204) Distal symphalangism of hands 15996213 IBIS 13 / 7739
4
 (HPO:0001156) Brachydactyly syndrome Occasional [IBIS] 10% (n=10) 15996213 IBIS 180 / 7739
5
 (HPO:0001644) Dilated cardiomyopathy 15996213 IBIS 141 / 7739
6
 (HPO:0003198) Myopathy rare [HPO:skoehler] 18611980 IBIS 151 / 7739
7
 (OMIM) Proximal weakness, upper extremities (1 patient) 15996213 IBIS 1 / 7739
8
 (HPO:0001699) Sudden death Frequent [IBIS] 33% (n=10) 15996213 IBIS 34 / 7739
9
 (OMIM) Duplication of bases of second metatarsals 15996213 IBIS 1 / 7739
10
 (HPO:0030084) Clinodactyly 15996213 IBIS 90 / 7739
11
 (OMIM) Extra ossicles 15996213 IBIS 1 / 7739
12
 (OMIM) Conduction disease, sinoatrial and atrioventricular, progressive 15996213 IBIS 1 / 7739
13
 (MedDRA:10065341) Ventricular tachyarrhythmia 15996213 IBIS 2 / 7739
14
 (OMIM) Short or absent middle phalanges 15996213 IBIS 1 / 7739

Associated genes:

LMNA

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LMNA rs267607582 pathogenic RCV000015618.26

Additional Information:

Clinical Description OMIM Sinkovec et al. (2005) reported a Slovenian family with 10 affected members in 4 generations who had adult-onset progressive sinoatrial and atrioventricular conduction disease, sudden death due to ventricular tachyarrhythmia, dilated cardiomyopathy, and a unique type of brachydactyly ...
Molecular genetics OMIM Renou et al. (2008) analyzed the LMNA gene in 12 members of the family with heart-hand syndrome originally reported by Sinkovec et al. (2005) and identified a heterozygous splice site mutation (150330.0045) that cosegregated with disease in 6 ...