Coloboma of macula-brachydactyly type B syndrome

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Synonyms: Sorsby syndrome

A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits hypoplastic or absent nails (congenital anonychia) broad or bifid thumbs and halluces syndactyly and flexion deformities of the joints of some digits.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Coloboma of macula-brachydactyly type B syndrome?

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