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Mononen-Karnes-Senac syndrome

Disease definition

Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.

ORPHA:2565

Classification level: Disorder
  • Synonym(s):
    • Skeletal dysplasia-brachydactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • OMIM: 301940
  • UMLS: C2931060
  • MeSH: C535914
  • GARD: 4886
  • MedDRA: -
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