Rachischisis (Greek: "rhachis - ῥάχις" - spine, and "schisis - σχίσις" - split) is a developmental birth defect involving the neural tube. This anomaly occurs in utero, when the posterior neuropore of the neural tube fails to close by the 27th intrauterine day. As a consequence the vertebrae overlying the open portion of the spinal cord do not fully form and remain unfused and open, leaving the spinal cord exposed. Patients with rachischisis have motor and sensory deficits, chronic infections, and disturbances in bladder function. This defect often occurs with anencephaly. Craniorachischisis is a variant of rachischisis that occurs when the entire spinal cord and brain are exposed – simultaneous complete rachischisis and anencephaly. It is incompatible with life; affected pregnancies often end in miscarriage or stillbirth. Infants born alive with craniorachischisis die soon after birth. Presentation
Interactions with other developmental deformities
Rachischisis is a complex condition and presents itself along with other deformities. Other deformities are typically those of the face, neck, spine and head. It is extremely common for rachischisis to develop in conjunction with aplasia (a condition in which a tissue or organ does not develop fully).Acrania is a developmental defect in which the bones with the cranial vault do not develop correctly and brain does not develop fully. Rachischisis can develop in conjunction with acrania, causing further damage to the brain and spinal regions. In the absence of acrania, patients with rachischisis still have a high mortality rate.Anencephaly is a condition in which the baby develops with an open skull in some region.
Rachischisis is a neural tube defect characterised by a complete or severe defect in the spine. The defect can be located anywhere from the cervical region to the sacrum, or through the entire length of the spine. Typical defects are clefts or splits that open the spine to the exterior environment. Rachischisis occurs around 3–4 weeks after conception when the posterior neuropore of the neural tube does not close completely. It is a multifactorial aetiology and is most typically accompanied by other defects. Rachischisis is often described as a severe form of spina bifida, with the spine not only being exposed to the exterior environment, but with the opening being large enough to allow the neural plate to spread out of the opening and to the surface. Treatment
Rachischisis is a severe condition and survival rates for fetuses are extremely low. Babies that are born with the condition have high mortality rates and extreme developmental defects. Fetuses with the condition often spontaneously abort. Babies that are born with rachischisis are stillborn or die within a few hours to a few days of birth. Typically, medical termination of pregnancy is presented as an option to the mother once a diagnosis of rachischisis has been confirmed. As the condition is often accompanied by other deformities that not only need to be treated themselves, but also complicate the condition of rachischisis, it is difficult to treat fetuses affected.