Hamanishi Ueba Tsuji syndrome

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]

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

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".