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Robinow syndrome

Disease definition

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.


Classification level: Disorder
  • Synonym(s):
    • Acral dysostosis with facial and genital abnormalities
    • Fetal face syndrome
    • Mesomelic dwarfism-small genitalia syndrome
    • Robinow dwarfism
    • Robinow-Silverman-Smith syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 180700  268310  616331  616894
  • UMLS: C0265205
  • MeSH: -
  • GARD: 312
  • MedDRA: -

Detailed information


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