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{{Orphan|date=June 2022}}

{{Infobox medical condition
| name = Polydactyly -myopia syndrome
| synonyms = Czeizel-Brooser syndrome
| image = Autosomal dominant - en.svg
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| specialty = Medical genetics
| symptoms = [[Polydactyly]] with progressive [[myopia]]
| complications = Vision impairment
| onset =
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| prevention = none
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| prognosis = Medium
| frequency = very rare, only 9 cases have been reported in medical literature
| deaths = -
}}

'''Polydactyly-myopia syndrome''', also known as '''Czeizel-Brooser syndrome''', is a very rare genetic disorder which is characterized by post-axial [[polydactyly]] on all 4 limbs and progressive [[myopia]].<ref>{{Cite web |title=Polydactyly-myopia syndrome (Concept Id: C1868117) - MedGen - NCBI |url=https://www.ncbi.nlm.nih.gov/medgen/357424 |access-date=2022-06-01 |website=www.ncbi.nlm.nih.gov |language=en}}</ref> Additional symptoms include bilateral congenital [[inguinal hernia]] and undescended testes.<ref>{{Cite web |title=Polydactyly-Myopia Syndrome |url=http://www.dovemed.com/diseases-conditions/polydactyly-myopia-syndrome/ |access-date=2022-06-01 |website=DoveMed |language=en}}</ref> It has only been described in nine members of a 4-generation [[Hungary|Hungarian]] family in the year 1986.<ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Polydactyly myopia syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2917 |access-date=2022-06-01 |website=www.orpha.net |language=en}}</ref><ref>{{Cite web |title=OMIM Entry - 174310 - POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA |url=https://omim.org/entry/174310#1 |access-date=2022-06-01 |website=omim.org |language=en-us}}</ref><ref>{{Cite journal |last1=Czeizel |first1=A. |last2=Brooser |first2=G. |date=2008-04-23 |title=A postaxial Polydactyly and progressive myopia syndrome of autosomal dominant origin |url=https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.1986.tb01898.x |journal=Clinical Genetics |language=en |volume=30 |issue=5 |pages=406–408 |doi=10.1111/j.1399-0004.1986.tb01898.x|pmid=3802559 |s2cid=41466296 |url-access=subscription }}</ref><ref>{{Cite web |title=Polydactyly myopia syndrome - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome |access-date=2022-06-01 |website=rarediseases.info.nih.gov |language=en}}</ref> This disorder is inherited in an autosomal dominant manner.<ref>{{Cite web |title=Polydactyly myopia syndrome – Rare Hematology News |url=https://www.rarehematologynews.com/rarediseases/polydactyly-myopia-syndrome/ |access-date=2022-06-01 |language=en-US}}</ref><ref>{{Cite journal |last1=Czeizel |first1=A. |last2=Brooser |first2=G. |date=November 1986 |title=A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin |journal=Clinical Genetics |volume=30 |issue=5 |pages=406–408 |doi=10.1111/j.1399-0004.1986.tb01898.x |issn=0009-9163 |pmid=3802559|s2cid=41466296 }}</ref>

== References ==
{{reflist}}

[[Category:Genetics]]

{{Genetic-disorder-stub}}

Polydactyly-myopia syndrome - История изменений

Admin: 1 версия импортирована

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