Hamanishi Ueba Tsuji syndrome
| Hamanishi Ueba Tsuji syndrome | |
|---|---|
| Other names | congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, polyneuropathy hand defect[1] |
 | |
| 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".
- ↑ "Orphanet: Syndrome de Hamanishi Ueba Tsuji".
- ↑ "Hamanishi Ueba Tsuji syndrome - About the Disease - Genetic and Rare Diseases Information Center". Archived from the original on January 8, 2017.
- ↑ "Hamanishi Ueba Tsuji syndrome – CheckOrphan". 31 December 2014.
- ↑ "Hamanishi ueba tsuji syndrome- Clinical cases, top doctors".
- ↑ "Hamanishi Ueba Tsuji syndrome – Rare Pulmonology News".
- ↑ "Hamanishi Ueba Tsuji syndrome | Rare Diseases".