Orphanet: Mesoaxial synostotic syndactyly with phalangeal reduction
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Mesoaxial synostotic syndactyly with phalangeal reduction

Disease definition

A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.

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: -

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

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