Coloboma of macula-brachydactyly type B syndrome

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	-

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

1. "Coloboma of macula with type B brachydactyly". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-07-01.
2. "Orphanet: Coloboma of macula brachydactyly type B Sorsby syndrome". www.orpha.net (in Spanish). Retrieved 2022-07-01.
3. "Coloboma of macula with type B brachydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on December 29, 2016. Retrieved 2022-07-01.
4. "Entry - 120400 - Coloboma of macula with type B brachydactyly". omim.org. Retrieved 2022-07-01.