Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner.
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rdfs:label
| - Brachydactyly-long thumb syndrome (en)
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| - Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner. (en)
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name
| - Brachydactyly-long thumb syndrome (en)
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diagnosis
| - Physical examination, X-ray, CT scan. (en)
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onset
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symptoms
| - Brachydactyly, long thumb and heart defects. (en)
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causes
| - Autosomal dominant inheritance (en)
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duration
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frequency
| - very rare, only 4 cases have been reported. (en)
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synonyms
| - Long-thumb brachydactyly syndrome, brachydactyly long thumb type. (en)
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has abstract
| - Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner. (en)
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complications
| - Possible death due to heart defects (en)
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prevention
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prognosis
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risks
| - Having a parent with the disorder (en)
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alias
| - (en)
- Long-thumb brachydactyly syndrome, brachydactyly long thumb type. (en)
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