Presentation
Iniencephaly if spinal retroflexion is present. Checklist for high-quality reporting Craniorachischisis – Documentation Checklist Describe in detail: Defect – overall presentation. [cdc.gov]
Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]
At present, the genetic basis determining the different phenotypes observed in our twins is unknown. [ncbi.nlm.nih.gov]
Clinical description Craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal. [orpha.net]
Cardiovascular
- Heart Disease
X-Linked/diagnostic imaging Genetic Diseases, X-Linked/embryology Genetic Diseases, X-Linked/genetics Genotype Gestational Age Heart Defects, Congenital/diagnostic imaging Heart Defects, Congenital/embryology* Heart Defects, Congenital/genetics Heterotaxy [ncbi.nlm.nih.gov]
NTDs are the most common congenital abnormalities of the CNS and, overall, the second most common type of congenital abnormality after congenital heart disease. They are a significant cause of fetal loss. [neuropathology-web.org]
Treatment
Practical, clinically relevant material facilitates the diagnosis and treatment of musculoskeletal, pain, and chronic disabling conditions. [books.google.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
This is not typical of most cases, so this treatment would not be possible in the majority of cases of the condition. Due to the lack of treatments available for rachischisis, there is a focus on prevention of the disease. [en.wikipedia.org]
Prognosis
Remarkably intracardiac defects do not seem to affect prognosis much. [alliedacademies.org]
Treatment and prognosis Prognosis is poor and death often occurs in utero however live births are possible 1,2. neural tube defects anencephaly References Promoted articles (advertising) [radiopaedia.org]
The prognosis of Cantrell pentalogy is related to the severity of defects identified. [ijcasereportsandimages.com]
(Outcomes/Resolutions) The prognosis of Craniorachischisis is extremely poor, since the condition almost always results in fatalities. [dovemed.com]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
We suggest that other PCP genes should be considered as candidates for a role in the etiology of human NTDs. Further investigations are therefore necessary. [ncbi.nlm.nih.gov]
Etiology As with other neural tube defects, craniorachischisis is thought to be of multifactorial origin. Antenatal diagnosis Antenatal diagnosis is possible by ultrasonographic monitoring. [orpha.net]
Etiology, pathogenesis and prevention of neural tube defects. Congenit. Anom. 2006, 46, 55–67. 11. Tania M, Jean-Paul Borg. Neural Tube Defects: From a Proteomic Standpoint. Metabolites 2015, 5,164-183. 12. Copp, A.J.; Greene, N.D. [jmscr.igmpublication.org]
Epidemiology
Summary Epidemiology The prevalence is not known. Clinical description Craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal. [orpha.net]
Clinical and epidemiologic notes Craniorachischisis is a lethal condition and is often an isolated, non-syndromic anomaly. Eyes are normally formed; bulging is a result of absence of the frontal portion of the cranial vault. [cdc.gov]
Epidemiology and control of neural tube defects. 1st ed. Oxford, England: Oxford University Press; 1992. pp. 521–603. [Google Scholar] 4. Medical Research Council Vitamin Study Research Group. [ncbi.nlm.nih.gov]
There is a strong epidemiological evidence, that a relative folic acid deficiency in periconceptional period related to many cases of Neural Tube Defects. [njca.info]
Prevention
Preventing neural tube defects Research date: 1 June 2018 - 30 September 2020 Grant amount: £189,516.00 Neural tube defects (NTDs) are severe developmental abnormalities that affect a baby’s brain, spine, or spinal column. [action.org.uk]
Parental counseling and folic acid supplement, started before conception and continued through out the pregnancy are the recommended preventive measures. [ncbi.nlm.nih.gov]
Title: A Fetal Study of Craniorachischisis, With Emphasis on Prenatal Diagnosis and Prevention Authors: Dr Gayathri. P*, Dr.S.Saritha, Dr D. [jmscr.igmpublication.org]