Coloboma_of_macula-brachydactyly_type_B_syndrome

Coloboma of macula-brachydactyly type B syndrome

Coloboma of macula-brachydactyly type B syndrome

Medical condition

Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome[1] is a rare genetic disorder which is characterized by bilateral macular coloboma, nystagmus of the horizontal pendular type, visual impairment, and brachydactyly type B.[2] Additional findings include congenital anonychia, broad/duplication of the thumbs and big toes, syndactyly and camptodactyly. It is inherited in an autosomal dominant manner.[3] It has been described in 9 members of a 4-generation British family.[4]

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References

  1. [1]
    "Coloboma of macula with type B brachydactyly". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-07-01.
  2. [2]
    "Orphanet: Coloboma of macula brachydactyly type B Sorsby syndrome". www.orpha.net (in Spanish). Retrieved 2022-07-01.
  3. [3]
    "Coloboma of macula with type B brachydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-01.
  4. [4]
    "Entry - 120400 - Coloboma of macula with type B brachydactyly". omim.org. Retrieved 2022-07-01.


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