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