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Mesoaxial synostotic syndactyly with phalangeal reduction

Disease definition

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.

ORPHA:157801

Classification level: Disorder
  • Synonym(s):
    • MSSD
    • Syndactyly type 9
    • Syndactyly, Malik-Percin type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q70.0  Q70.2
  • OMIM: 609432
  • UMLS: C1836206
  • MeSH: -
  • GARD: 10590
  • MedDRA: -

Detailed information

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