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Spondylocostal dysostosis-anal and genitourinary malformations syndrome

Disease definition

Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.

ORPHA:94095

  • Synonym(s):
    • Casamassima-Morton-Nance syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 271520
  • UMLS: C1849069
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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