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Autosomal recessive Robinow syndrome

Disease definition

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

ORPHA:1507

Classification level: Subtype of disorder
  • Synonym(s):
    • COVESDEM syndrome
    • Costovertebral segmentation defect-mesomelia syndrome
    • RRS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 268310
  • UMLS: C1849334
  • MeSH: C535863
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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