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Spina bifida-hypospadias syndrome

Disease definition

Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.

ORPHA:3176

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q05.9
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 4940
  • MedDRA: -
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