Ectrodactyly-polydactyly syndrome

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Ectrodactyly-polydactyly syndrome
Other namesEctrodactyly polydactyly
Specialty Medical genetics
Symptoms Combination of ectrodactyly and polydactyly
Complications Walking, grip
Usual onsetBirth
DurationLife-long (ectrodactyly) but can be corrected with surgery (polydactyly)
PreventionNone
Frequencyvery rare, only 4 cases have been reported in medical literature
Deaths-

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]

References

  1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ectrodactyly polydactyly syndrome". www.orpha.net. Retrieved 2022-06-03.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ↑ "Ectrodactyly polydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on February 8, 2017. Retrieved 2022-06-03.
  3. ↑ 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. PMID   7151304. S2CID   19884717.
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