La denominación “disrafismo espinal” o “espína bífida” que literalmente significan “columna hendida”, están caracterizadas por el desarrollo incompleto de la médula espinal, o las meninges (la cubierta protectora alrededor del cerebro y la médula espinal). Estos términos manejan una gran variedad de enfermedades, describiendo diferentes formas de malformaciones congénitas del tubo neural (médula espinal y sistema nervioso del embrión). La reparación quirúrgica de estas anomalías varía tanto, como la compleja anatomía de estas lesiones que no siguen un patrón específico.
El sistema nervioso humano se desarrolla de una placa de células pequeña y especializada a lo largo de la espalda del embrión. Al comienzo del desarrollo, los bordes de ésta placa comienzan a enroscarse y acercarse entre sí, creando el tubo neural, un tubo estrecho que se cierra para formar el cerebro y la médula espinal del embrión. A medida que progresa el desarrollo, la parte superior del tubo se convierte en el cerebro y el resto se convierte en la médula espinal. Este proceso generalmente se completa en el día 28 del embarazo. Si ocurriesen problemas durante este proceso, el resultado puede ser trastornos de la formación del tejido nervioso conocidos bajo el epónimo de defectos del tubo neural, e incluyen el disrafismo espinal.
Se muestra en la figura el proceso de pasos hasta el cierre del tubo neural, o neurulación. Nótese que de ser inicialmente una porción plana, la placa neural normalmente se "dobla" en si misma hasta lograr la formación de un "tubo" neural o médula espinal con canal central llamado conducto ependimario. Cuando uno de estos pasos falla, se encuentran los defectos del tubo neural o disrafismo.
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