Presentation
Motor symptoms as well as neurological deficits and loss of bladder and bowel function are usually present. CRS is also associated with anomalies in other systems such as the gastrointestinal and genitourinary tract. [ncbi.nlm.nih.gov]
A newborn presented with anomalies of the spinal column (lumbosacral) with absence/hypoplasia of the 12th thoracic and first lumbar vertebral anomaly body. Bladder and bowel initially were functional. [nature.com]
As previously described in sirenomelia, the findings in the present case indicate a possible vascular etiology of CRS. [caudalregression.blogspot.com]
Presents ultrasound video ciips as they would appear in practice on the bonus DVD. [books.google.com]
Prognosis The prognosis for caudal dysplasia is highly dependant on the severity of the malformation present. Those with extremely mild abnormalities may have no or few symptoms. [encyclopedia.com]
Respiratoric
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Sighing
[…] coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author’s mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh [books.google.de]
Neurologic
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Motor Symptoms
Motor symptoms as well as neurological deficits and loss of bladder and bowel function are usually present. CRS is also associated with anomalies in other systems such as the gastrointestinal and genitourinary tract. [ncbi.nlm.nih.gov]
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Confusion
Gestational diabetes (or diabetes that develops during pregnancy) is a separate entity and should not be confused with diabetes in the first trimester. Gestational diabetes is not associated with an increased risk for caudal dysplasia. [encyclopedia.com]
Treatment
Management and treatment Management requires a multidisciplinary approach by neurosurgeons, urologists, neuphrologists, physical therapists and psychologists. [orpha.net]
Other treatments involve orthopedic devices and treatments for neurogenic bladder. Orthopedic devices may be used to help with problems of the hip, back, and legs. [encyclopedia.com]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Nonprogressive kyphosis or scoliosis do not require any treatment whereas progressive scoliosis or kyphosis requires operative stabilization. The treatment of spinal-pelvic instability is controversial. [boneandspine.com]
Neurologic disturbances are more severe in this group Treatment and prognosis Both treatment and prognosis depend on the extent of regression. [radiopaedia.org]
Prognosis
Prognosis Prognosis is poor. Early neonatal death in the severe forms occurs from cardiac, renal and respiratory complications. Surviving infants usually have normal mental function. [orpha.net]
MRI has demonstrated the level of the vertebral anomalies as well as the associated abnormalities and this is crucial because the prognosis of this condition depends on the severity of the lesion and the presence of associated disorders. [casereports.bmj.com]
Prognosis The prognosis for caudal dysplasia is highly dependant on the severity of the malformation present. Those with extremely mild abnormalities may have no or few symptoms. [encyclopedia.com]
[…] congenital renal malformations, genital malformations) caudal regression syndrome is similar to sirenomelia; according to some authors, sirenomelia is an extreme variant of caudal regression, but in new studies these two syndromes are taken separately. prognosis [atlases.muni.cz]
The long-term outlook ( prognosis ) for people with caudal regression syndrome depends on the specific features and severity of the condition in each affected person. [rarediseases.info.nih.gov]
Etiology
Etiology and pathogenesis are poorly understood.A newborn presented with anomalies of the spinal column (lumbosacral) with absence/hypoplasia of the 12th thoracic and first lumbar vertebral anomaly body. Bladder and bowel initially were functional. [ncbi.nlm.nih.gov]
The pathogenesis and etiology of CRS is still unknown. There seems to be an association with maternal diabetes, genetic predisposition and vascular hypoperfusion. [nature.com]
As previously described in sirenomelia, the findings in the present case indicate a possible vascular etiology of CRS. [caudalregression.blogspot.com]
Etiology The malformations are believed to result from impaired development of the mesoderm prior to 4 weeks gestation. [orpha.net]
[…] concerning dermatopathology and pathology Atlas of fetal pathology Congenital malformations Physiological developement of an embryo and fetus, growth and changes of the external shape Congenital malformations and congenital anomalies Basic terminology Etiology [atlases.muni.cz]
Epidemiology
Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. Am J Med Genet 1998 ; 78 : 140 – 145. 5. Loffredo, CA, Wilson, PD, Ferencz, C. [cambridge.org]
Summary Epidemiology Prevalence is estimated at around 1/50,000 and 1/100,000 of pregnancies. Maternal diabetes is a major risk factor for developing this syndrome, which is up to 200 fold more frequent than in the general population. [orpha.net]
Clinical -Epidemiological analysis of a large consecutive series of malformed infants. Am.J.Med.Genet 2008;146A:15-25 8. Padamanabhan R, Naruse I, Shiota K. Caudal regression in staged human embryos: Carnegie stages 16-23. [jmscr.igmpublication.org]
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. Am J Med Genet C Semin Med Genet 2011; 157C: 358-373. 9. Duhamel B. [pacificejournals.com]
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Gene 2006; 43: 545-554. Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis 2011; 6: 56. Padmanabhan R. [alliedacademies.org]
Pathophysiology
Neurogenic bladder dysfunction in children: Review of pathophysiology and current management. J Pediatr 1994;124:1-7. 23. Joseph DB, Bauer SB, Colodny AH, Mandell J, Retik AB. Clean, intermittent catheterization of infants with neurogenic bladder. [njsrjournal.org]
Prevention
Orthopaedic and physical therapeutic care goals are the prevention of contractures and to enable a wheelchair positioning of the lower extremity later on. [nature.com]
It is important to prepare the family for this and to stress the need for preventative care (i.e., prevention of infections) and vigilance in detecting complications. [encyclopedia.com]
If your disability is severe enough to prevent you from working, you may be eligible for disability benefits. [disability-benefits-help.org]
Causes - Caudal regression syndrome Prevention - Caudal regression syndrome Not supplied. [checkorphan.org]
Currently, there are no specific methods or guidelines available to prevent Caudal Regression Syndrome, since it is a genetic condition If there is a family history of the condition, genetic testing of the expecting parents (and related family members [dovemed.com]