Medicine:Coloboma of macula-brachydactyly type B syndrome
From HandWiki
| Coloboma of macula-brachydactyly type B syndrome | |
|---|---|
| Other names | Sorsby syndrome |
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| Autosomal dominant pattern | |
| Specialty | Medical genetics, Ophthalmology |
| Symptoms | Mainly coloboma with type B brachydactyly |
| Usual onset | Birth |
| Duration | Lifelong |
| Prevention | None |
| Frequency | rare |
| Deaths | - |
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]
References
- ↑ "Coloboma of macula with type B brachydactyly" (in en-US). 16 June 2022. https://rarediseases.org/gard-rare-disease/coloboma-of-macula-with-type-b-brachydactyly/.
- ↑ "Orphanet: Coloboma of macula brachydactyly type B Sorsby syndrome" (in es). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=1654&Disease_Disease_Search_diseaseGroup=SORSBY-SYNDROME&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Coloboma-of-macula---brachydactyly-type-B--Sorsby-syndrome-&title=Coloboma-of-macula---brachydactyly-type-B--Sorsby-syndrome-&search=Disease_Search_Simple.
- ↑ "Coloboma of macula with type B brachydactyly - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/1437/coloboma-of-macula-with-type-b-brachydactyly.
- ↑ "Entry - 120400 - Coloboma of macula with type B brachydactyly" (in en-us). https://omim.org/entry/120400#5.
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