Rachischisis can develop in conjunction with anencephaly, increasing the amount of area that is exposed. Although these conditions closely resemble one another, cases of rachischisis are morphologically different from cases of anencephaly, so they are indeed two separate conditions. Rachischisis is also a contributing factor to the onset of iniencephaly – a condition in which the spine is malformed. Further abnormalities such as rib malformations can occur with rachischisis. Stomach deformities can also develop with rachischisis. Risk factors
If a sibling of the fetus has been affected by rachischisis, there is increased risk that another child will develop the condition. There is also a slightly higher chance that females will develop the condition over males.Folate deficiency is also a well-accepted risk factor of all neural tube defects, including rachischisis. It is this reason that has caused many health policies regarding folic acid during pregnancy to be developed. Diagnosis
Initial diagnosis is typically by ultrasonography to reveal any congenital abnormalities. Fetuses affected typically show cranial abnormalities and deformities in brain tissue as well as spinal abnormalities. Following ultrasonography, magnetic resonance imaging (MRI) is commonly used to confirm the diagnosis. The presence of rachischisis is indicated in imaging by the absence of an arch-cranial line.Other neural tube defect diagnostic tools such as assays of α-fetoprotein or acetylcholinesterase may also be helpful in determining any other conditions that can lead to development of rachischisis. Classification
Rachischisis occurs most commonly in utero during the development of the child.
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.