Weyer's ulnar ray/oligodactyly syndrome

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Weyer's ulnar ray/oligodactyly syndrome
Specialty Medical genetics
Symptoms Ulnar ray deficit, heart, renal and splenic abnormalities and ectrodactyly
Complications Possible death (due to e.g. the cardiac and renal problems)
Usual onsetBirth
DurationLife-long
Causes Genetic mutation
PreventionNone
Prognosis Ok
FrequencyVery rare. only 4 families known to carry the gene/be affected by the gene
Deaths-

Weyer's ulnar ray/oligodactyly syndrome is a rare multi-systemic genetic disorder which is characterized by ectrodactyly, ulnar, radial, or fibular ray deficit, and heart, single central incisor, splenic, and renal abnormalities. Cleft lip/palate and hypoplasia of the mandibles have also been observed. [1] It is thought to be inherited in an autosomal recessive pattern. [2] It was first discovered in 1957 by Weyers et al. Only four families worldwide are known to be affected by the disorder. [3] [4] [5]

References

  1. ↑ Turnpenny, Peter; Dean, John; Duffty, P; Reid, J; Carter, P (1992-10-01). "Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects". Journal of Medical Genetics. 29 (9): 659–62. doi:10.1136/jmg.29.9.659. PMC   1016100 . PMID   1404297.
  2. ↑ Turnpenny, P D; Dean, J C; Duffty, P; Reid, J A; Carter, P (September 1992). "Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects". Journal of Medical Genetics. 29 (9): 659–662. doi:10.1136/jmg.29.9.659. ISSN   0022-2593. PMC   1016100 . PMID   1404297.
  3. ↑ "OMIM Entry - 602418 - WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME". omim.org. Retrieved 2022-05-15.
  4. ↑ Elejalde, B. R.; de Elejalde, M. M.; Booth, C.; Kaye, C.; Hollison, L. (July 1985). "Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis)". American Journal of Medical Genetics. 21 (3): 439–444. doi:10.1002/ajmg.1320210305. ISSN   0148-7299. PMID   3895927.
  5. ↑ Turnpenny, P. D.; Dean, J. C.; Duffty, P.; Reid, J. A.; Carter, P. (September 1992). "Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects". Journal of Medical Genetics. 29 (9): 659–662. doi:10.1136/jmg.29.9.659. ISSN   0022-2593. PMC   1016100 . PMID   1404297.
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