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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: -
A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
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