Brachydactyly-long thumb syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Brachydactyly - long thumb Brachydactyly, long thumb type |
| Number of Symptoms | 14 |
| OrphanetNr: | 2946 |
| OMIM Id: |
112430
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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: | 4 cases - PMID: 7246605 [IBIS] |
| Inheritance: |
Autosomal dominant - PMID: 7246605 [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 Heart-hand syndrome -Rare bone disease -Rare developmental defect during embryogenesis Syndrome with brachydactyly -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0009381) | Short finger | 7246605 | IBIS | 45 / 7739 | ||
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(HPO:0000894) | Short clavicles | 7246605 | IBIS | 30 / 7739 | ||
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(HPO:0000924) | Abnormality of the skeletal system | Very frequent [IBIS] | 7246605 | IBIS | 114 / 7739 | |
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(HPO:0001172) | Abnormality of the thumb | Very frequent [Orphanet] Very frequent [IBIS] | 7246605 | IBIS | 103 / 7739 | |
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(HPO:0200055) | Small hand | 7246605 | IBIS | 71 / 7739 | ||
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(HPO:0001156) | Brachydactyly syndrome | Very frequent [IBIS] | 7246605 | IBIS | 180 / 7739 | |
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(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 7246605 | IBIS | 244 / 7739 | |
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(HPO:0011911) | Abnormality of metacarpophalangeal joint | 7246605 | IBIS | 2 / 7739 | ||
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(HPO:0011675) | Arrhythmia | 7246605 | IBIS | 226 / 7739 | ||
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(HPO:0001626) | Abnormality of the cardiovascular system | Very frequent [Orphanet] | 7246605 | IBIS | 73 / 7739 | |
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(HPO:0001640) | Cardiomegaly | 7246605 | IBIS | 81 / 7739 | ||
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(HPO:0030148) | Heart murmur | 7246605 | IBIS | 29 / 7739 | ||
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(OMIM) | Long thumbs | 7246605 | IBIS | 2 / 7739 | ||
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(HPO:0030084) | Clinodactyly | 7246605 | IBIS | 90 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Hollister and Hollister (1981) described a family in which members of 3 generations had a syndrome characterized by brachydactyly, clinodactyly, small hands and feet, narrow shoulders with short clavicles, pectus excavatum, apparent cardiomegaly, murmur of pulmonic stenosis, possible ... |