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Catel-Manzke syndrome

Disease definition

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

ORPHA:1388

  • Synonym(s):
    • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
    • Index finger anomaly-Pierre Robin syndrome
    • Micrognathia digital syndrome
    • Palatodigital syndrome, Catel-Manzke type
    • Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
    • Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 302380  616145
  • UMLS: C1844887
  • MeSH: C535347
  • GARD: 28
  • MedDRA: -

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