Polydactyly-myopia syndrome: различия между версиями

Версия от 13:26, 18 июля 2025

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 (en).
↑ Polydactyly-Myopia Syndrome (en).
↑ RESERVED, INSERM US14-- ALL RIGHTS Orphanet: Polydactyly myopia syndrome (en).
↑ OMIM Entry - 174310 - POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA (en-us).
↑ Шаблон:Cite journal
↑ Polydactyly myopia syndrome - About the Disease - Genetic and Rare Diseases Information Center (en).
↑ Polydactyly myopia syndrome – Rare Hematology News (en-US).
↑ Шаблон:Cite journal

Шаблон:Genetic-disorder-stub

[1] Polydactyly-myopia syndrome (Concept Id: C1868117) - MedGen - NCBI (en).

[2] Polydactyly-Myopia Syndrome (en).

[3] RESERVED, INSERM US14-- ALL RIGHTS Orphanet: Polydactyly myopia syndrome (en).

[4] OMIM Entry - 174310 - POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA (en-us).

[5] Шаблон:Cite journal

[6] Polydactyly myopia syndrome - About the Disease - Genetic and Rare Diseases Information Center (en).

[7] Polydactyly myopia syndrome – Rare Hematology News (en-US).

[8] Шаблон:Cite journal

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