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VACTERL with hydrocephalus

Disease definition

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

ORPHA:3412

  • Synonym(s):
    • Sujansky-Leonard syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 276950  314390
  • UMLS: -
  • MeSH: -
  • GARD: 272
  • MedDRA: -

Additional information

Further information on this disease

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