Su incidencia ha disminuido en los últimos años debido primordialmente, al reconocimiento de la deficiencia de ácido fólico como uno de los factores predisponentes, cayendo su incidencia desde 13 casos por cada 10000 recién nacidos vivos en los años 70, hasta 6 casos por cada 10000 en la actualidad.
Ciertos factores como la raza (irlandeses y caucásicos), presencia de enfermedades y carencias maternas como la diabetes, déficit de Vitamina C, Zinc y Calcio, así como el uso de alcohol y ciertos medicamentos anticonvulsivos durante el embarazo han sido relacionados con el incremento de presentación de estos defectos a nivel de tubo neural.
La genética es otro punto a tomar en cuenta, teniendo un porcentaje entre 0.1 a 2.5% mayor de presentación de esta enfermedad, en miembros de familias que han tenido uno de sus elementos afectados.
Hay muchas teorías que intentan explicar el origen anatómico de estas malformaciones, pero la más aceptada, es un desorden en la neurulación con alteración en el cierre de la plácoda neural. Entre más temprano ocurre este desorden en el desarrollo del embrión, más severa es la malformación.
En general se reconocen 2 tipos de disrafismo espinal, que es el tipo abierto, y cerrado.
El tipo abierto, tiene a las patologías de Mielocele, y Mielomeningocele, que por su denominación, quiere decir que los componentes neurales están «abiertos» o EXPUESTOS.
Entre los de tipo cerrado, encontramos a la diastematomielia, lipomielomeningocele, lipoma lumbar, médula anclada, sinus dermal entre otros, en los cuales no se observa de forma externa o superficial a los elementos neurales, pero que sin embargo, si muestran en su interior anomalias en localización o formación.
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