Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Hamanishi Ueba Tsuji syndrome
Другие языки:

    Hamanishi Ueba Tsuji syndrome

    Подписчиков: 0, рейтинг: 0
    Hamanishi Ueba Tsuji syndrome
    Other names congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, polyneuropathy hand defect
    Autosomal recessive inheritance, pedigree example.png
    This syndrome is inherited in an autosomal recessive fashion
    Specialty Medical genetics
    Symptoms muscle, nerve, and skeletal problems,
    Usual onset birth
    Duration life-long
    Causes Genetic mutation
    Risk factors having parents with the disease

    Hamanishi Ueba Tsuji syndrome is a rare genetic motor and sensorial neuropathy which is characterized by digital (thumb and fingers) flexion malformations, reduced touch and pain sensations of the limbs,hypohidrosis, muscular dystrophy, minor physical anomalies (such as camptodactyly), and skeletal muscle atrophy,. This disorder is inherited in an autosomal recessive fashion, and its exact prevalence is unknown, although it is believed to be around 1 in 100,000. No new cases of this syndrome have been reported since 1986.


    Новое сообщение