| 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".
- ^ "Hamanishi Ueba Tsuji syndrome â CheckOrphan".
- ^ "Hamanishi ueba tsuji syndrome- Clinical cases, top doctors".
- ^ "Hamanishi Ueba Tsuji syndrome â Rare Pulmonology News".
- ^ "Hamanishi Ueba Tsuji syndrome | Rare Diseases".
| 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".
- ^ "Hamanishi Ueba Tsuji syndrome â CheckOrphan".
- ^ "Hamanishi ueba tsuji syndrome- Clinical cases, top doctors".
- ^ "Hamanishi Ueba Tsuji syndrome â Rare Pulmonology News".
- ^ "Hamanishi Ueba Tsuji syndrome | Rare Diseases".