Medicine:Hamanishi Ueba Tsuji syndrome
From HandWiki
Hamanishi Ueba Tsuji syndrome | |
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Other names | congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, polyneuropathy hand defect[1] |
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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,[2] hypohidrosis, muscular dystrophy, minor physical anomalies (such as camptodactyly), and skeletal muscle atrophy,.[3][4][5] 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.[6] No new cases of this syndrome have been reported since 1986.[7]
References
- ↑ "Hamanishi Ueba Tsuji syndrome". https://rarediseases.org/gard-rare-disease/hamanishi-ueba-tsuji-syndrome/.
- ↑ "Orphanet: Syndrome de Hamanishi Ueba Tsuji". https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=2643&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2926&Maladie(s)/groupes%20de%20maladies=Syndrome-de-Hamanishi-Ueba-Tsuji&title=Syndrome-de-Hamanishi-Ueba-Tsuji&search=Disease_Search_Simple.
- ↑ "Hamanishi Ueba Tsuji syndrome - About the Disease - Genetic and Rare Diseases Information Center". https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome.
- ↑ "Hamanishi Ueba Tsuji syndrome – CheckOrphan". https://checkorphan.org/disease/hamanishi-ueba-tsuji-syndrome/.
- ↑ "Hamanishi ueba tsuji syndrome- Clinical cases, top doctors". https://curofy.com/disease/hamanishi-ueba-tsuji-syndrome-4sCZ?tab=recent.
- ↑ "Hamanishi Ueba Tsuji syndrome – Rare Pulmonology News". https://www.rarepulmonologynews.com/rarediseases/hamanishi-ueba-tsuji-syndrome/.
- ↑ "Hamanishi Ueba Tsuji syndrome | Rare Diseases". https://rareguru.com/library/disease/2675/hamanishi-ueba-tsuji-syndrome.
![]() | Original source: https://en.wikipedia.org/wiki/Hamanishi Ueba Tsuji syndrome.
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