Weyer's ulnar ray/oligodactyly syndrome explained
| Weyer's ulnar ray/oligodactyly syndrome |
| Symptoms: | Ulnar ray deficit, heart, renal and splenic abnormalities and ectrodactyly |
| Complications: | Possible death (due to e.g. the cardiac and renal problems) |
| Onset: | Birth |
| Duration: | Life-long |
| Prevention: | None |
| Prognosis: | Ok |
| Frequency: | Very 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]
Notes and References
- 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 . 10.1136/jmg.29.9.659. 1404297 . 1016100 .
- 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 . 10.1136/jmg.29.9.659 . 0022-2593 . 1016100 . 1404297.
- Web site: OMIM Entry - 602418 - WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME . 2022-05-15 . omim.org . en-us.
- 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 . 10.1002/ajmg.1320210305 . 0148-7299 . 3895927.
- 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 . 10.1136/jmg.29.9.659 . 0022-2593 . 1016100 . 1404297.
