Hamanishi Ueba Tsuji syndrome explained

Hamanishi Ueba Tsuji syndrome
Synonyms:	congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, polyneuropathy hand defect^[1]
Symptoms:	muscle, nerve, and skeletal problems,
Onset:	birth
Duration:	life-long
Risks:	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]

Notes and References

1. Web site: Hamanishi Ueba Tsuji syndrome .
2. Web site: Orphanet: Syndrome de Hamanishi Ueba Tsuji .
3. Web site: Hamanishi Ueba Tsuji syndrome - About the Disease - Genetic and Rare Diseases Information Center .
4. Web site: Hamanishi Ueba Tsuji syndrome – CheckOrphan .
5. Web site: Hamanishi ueba tsuji syndrome- Clinical cases, top doctors .
6. Web site: Hamanishi Ueba Tsuji syndrome – Rare Pulmonology News .
7. Web site: Hamanishi Ueba Tsuji syndrome | Rare Diseases .