Polydactyly-Myopia Syndrome

Polydactyly -myopia syndrome
Other names	Czeizel-Brooser syndrome
Specialty	Medical genetics
Symptoms	Polydactyly with progressive myopia
Complications	Vision impairment
Prevention	none
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.^[1] Additional symptoms include bilateral congenital inguinal hernia and undescended testes.^[2] It has only been described in nine members of a 4-generation Hungarian family in the year 1986.^[3]^[4]^[5]^[6] This disorder is inherited in an autosomal dominant manner.^[7]^[8]

References

↑ "Polydactyly-myopia syndrome (Concept Id: C1868117) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/357424.
↑ "Polydactyly-Myopia Syndrome" (in en). http://www.dovemed.com/diseases-conditions/polydactyly-myopia-syndrome/.
↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Polydactyly myopia syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2917.
↑ "OMIM Entry - 174310 - POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA" (in en-us). https://omim.org/entry/174310#1.
↑ Czeizel, A.; Brooser, G. (2008-04-23). "A postaxial Polydactyly and progressive myopia syndrome of autosomal dominant origin" (in en). Clinical Genetics 30 (5): 406–408. doi:10.1111/j.1399-0004.1986.tb01898.x. PMID 3802559. https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.1986.tb01898.x.
↑ "Polydactyly myopia syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome.
↑ "Polydactyly myopia syndrome – Rare Hematology News" (in en-US). https://www.rarehematologynews.com/rarediseases/polydactyly-myopia-syndrome/.
↑ Czeizel, A.; Brooser, G. (November 1986). "A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin". Clinical Genetics 30 (5): 406–408. doi:10.1111/j.1399-0004.1986.tb01898.x. ISSN 0009-9163. PMID 3802559. https://pubmed.ncbi.nlm.nih.gov/3802559/.

0.00

(0 votes)

[1] "Polydactyly-myopia syndrome (Concept Id: C1868117) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/357424.

[2] "Polydactyly-Myopia Syndrome" (in en). http://www.dovemed.com/diseases-conditions/polydactyly-myopia-syndrome/.

[3] RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Polydactyly myopia syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2917.

[4] "OMIM Entry - 174310 - POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA" (in en-us). https://omim.org/entry/174310#1.

[5] Czeizel, A.; Brooser, G. (2008-04-23). "A postaxial Polydactyly and progressive myopia syndrome of autosomal dominant origin" (in en). Clinical Genetics 30 (5): 406–408. doi:10.1111/j.1399-0004.1986.tb01898.x. PMID 3802559. https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.1986.tb01898.x.

[6] "Polydactyly myopia syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome.

[7] "Polydactyly myopia syndrome – Rare Hematology News" (in en-US). https://www.rarehematologynews.com/rarediseases/polydactyly-myopia-syndrome/.

[8] Czeizel, A.; Brooser, G. (November 1986). "A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin". Clinical Genetics 30 (5): 406–408. doi:10.1111/j.1399-0004.1986.tb01898.x. ISSN 0009-9163. PMID 3802559. https://pubmed.ncbi.nlm.nih.gov/3802559/.