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]
| Coloboma of macula-brachydactyly type B syndrome | |
|---|---|
| Other names | Sorsby syndrome |
 | |
| Autosomal dominant pattern | |
| Specialty | Medical genetics, Ophthalmology |
| Symptoms | Mainly coloboma with type B brachydactyly |
| Usual onset | Birth |
| Duration | Lifelong |
| Prevention | None |
| Frequency | rare |
| Deaths | - |
References
edit- ^ "Coloboma of macula with type B brachydactyly". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-07-01.
- ^ "Orphanet: Coloboma of macula brachydactyly type B Sorsby syndrome". www.orpha.net (in Spanish). Retrieved 2022-07-01.
- ^ "Coloboma of macula with type B brachydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-01.
- ^ "Entry - 120400 - Coloboma of macula with type B brachydactyly". omim.org. Retrieved 2022-07-01.
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