| 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 onset | Birth |
| Duration | Life-long |
| Causes | Genetic mutation |
| 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]
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. doi:10.1136/jmg.29.9.659. PMC 1016100. PMID 1404297.
- ↑ 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.
- ↑ "OMIM Entry - 602418 - WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME". omim.org. Retrieved 2022-05-15.
- ↑ 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.
- ↑ 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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