coloboma of macula-brachydactyly type B syndrome https://www.malacards.org/card/coloboma_of_macula_with_type_b_brachydactyly SCTID:717785002 MEDGEN:343882 Sorsby syndrome MONDO:0007353 OMIM:120400 Coloboma of macula - brachydactyly type B or Sorsby syndrome is a 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 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. Coloboma of macula - brachydactyly type B is inherited in a dominant manner. Orphanet:1471 MESH:C535969 UMLS:C1852752 GARD:0001437 hereditary macular dystrophy