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Hamanishi Ueba Tsuji syndrome

From Wikipedia, the free encyclopedia
Hamanishi Ueba Tsuji syndrome
Other namescongenital 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
SpecialtyMedical genetics
Symptomsmuscle, nerve, and skeletal problems,
Usual onsetbirth
Durationlife-long
CausesGenetic mutation
Risk factorshaving 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

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