Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Brachydactyly-long thumb syndrome
Другие языки:

    Brachydactyly-long thumb syndrome

    Подписчиков: 0, рейтинг: 0
    Brachydactyly-long thumb syndrome
    Other names Long-thumb brachydactyly syndrome, brachydactyly long thumb type.
    Brachydactyly-long thumb syndrome.jpg
    Specialty Medical genetics
    Symptoms Brachydactyly, long thumb and heart defects.
    Complications Possible death due to heart defects
    Usual onset Birth
    Duration Life-long
    Causes Autosomal dominant inheritance
    Risk factors Having a parent with the disorder
    Diagnostic method Physical examination, X-ray, CT scan.
    Prevention None
    Prognosis Ok
    Frequency very rare, only 4 cases have been reported.

    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, hypomobility 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.


    Новое сообщение