In one study the prevalence of craniorachischisis was 0.51 per 10,000 live births in a Texas-Mexico border population 1.
Anencephaly and spina bifida are present in craniorachischisis. The risk factors for neural tube defects are the same as for craniorachischisis. Recent studies have shown that mutations in the SCRIB and CELSR1 genes may be associated with craniorachischisis specifically 3.
Craniorachischisis is visible on antenatal ultrasound 2.
Treatment and prognosis
Prognosis is poor and death often occurs in utero however live births are possible 1,2.
- 1. Johnson KM, Suarez L, Felkner MM, Hendricks K. Prevalence of craniorachischisis in a Texas-Mexico border population. (2004) Birth defects research. Part A, Clinical and molecular teratology. 70 (2): 92-4. doi:10.1002/bdra.10143 - Pubmed
- 2. A. Coskun, G. Kiran, O. Ozdemir. Craniorachischisis Totalis: A Case Report and Review of the Literature. (2018) Fetal Diagnosis and Therapy. 25 (1): 21. doi:10.1159/000188662 - Pubmed
- 3. Yunping Lei, Huiping Zhu, Cody Duhon, Wei Yang, M. Elizabeth Ross, Gary M. Shaw, Richard H. Finnell. Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida. (2013) PLOS ONE. 8 (7): e69262. doi:10.1371/journal.pone.0069262 - Pubmed