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Coloboma of macula-brachydactyly type B syndrome

Disease definition

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.

ORPHA:1471

Classification level: Disorder
  • Synonym(s):
    • Sorsby syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 120400
  • UMLS: C1852752
  • MeSH: C535969
  • GARD: 1437
  • MedDRA: -
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