Ectrodactyly-polydactyly syndrome
Ectrodactyly-polydactyly syndrome is a very rare congenital limb malformation syndrome of genetic origin which is characterized a combination of ectrodactyly and polydactyly[1] consisting of underdeveloped/absent central rays of the hands or feet alongside postaxial polydactyly in the same limb that can range from a hypoplastic, bone-devoid extra digit to a fully developed supernumerary digit.[2] It has been described in 4 children from a single sibship in Belgium.[3]
| Ectrodactyly-polydactyly syndrome | |
|---|---|
| Other names | Ectrodactyly polydactyly |
| Specialty | Medical genetics |
| Symptoms | Combination of ectrodactyly and polydactyly |
| Complications | Walking, grip |
| Usual onset | Birth |
| Duration | Life-long (ectrodactyly) but can be corrected with surgery (polydactyly) |
| Prevention | None |
| Frequency | very rare, only 4 cases have been reported in medical literature |
| Deaths | - |
References
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ectrodactyly polydactyly syndrome". www.orpha.net. Retrieved 2022-06-03.
- "Ectrodactyly polydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-03.
- Regemorter, N. van; Milaire, J.; Ramet, J.; Haumont, D.; Rodesch, F. (2008-04-23). "Familial ectrodactyly and polydactyly: variable expressivity of one single gene - embryological considerations". Clinical Genetics. 22 (4): 206–210. doi:10.1111/j.1399-0004.1982.tb01434.x.
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