Heart-hand syndrome type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Tabatznik syndrome Atriodigital dysplasia type 2 |
| Number of Symptoms | 4 |
| OrphanetNr: | 1350 |
| OMIM Id: |
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| ICD-10: |
Q87.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 0.1 of 100 000 |
| Inheritance: |
X-linked X-linked dominant Autosomal dominant 1976459 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic cardiac rhythm disease
-Rare cardiac disease -Rare genetic disease Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare genetic disease Heart-hand syndrome -Rare bone disease -Rare developmental defect during embryogenesis Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Comment:
| Tabatznik reported a syndrome in which upper limb deformities, including type D brachydactyly, occurred in association with cardiac arrhythmias as a dominant, either autosomal or X-linked trait (PMID:1976459). |
Symptom Information:
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(HPO:0011675) | Arrhythmia | Very frequent [IBIS] Very frequent [Orphanet] Very frequent [IBIS] | 1976459 | IBIS | 226 / 7739 | |
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(HPO:0009650) | Short distal phalanx of the thumb | 21812358 | IBIS | 3 / 7739 | ||
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(HPO:0005627) | Type D brachydactyly | 1976459 | IBIS | 3 / 7739 | ||
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(HPO:0002817) | Abnormality of the upper limb | Very frequent [IBIS] Occasional [Orphanet] | 1976459 | IBIS | 25 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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