Jun 24, 2005 caudal regression syndrome is a rare disorder of distal spinal segments affecting the development of the spinal cord, with attendant sequelae. Caudal regression syndrome, or sacral agenesis, is a rare condition where the lower spine doesnt fully form before birth. Patients with the caudal regression syndrome are usually first investigated for neurologic, uro. Caudal regression syndrome is a disorder that impairs the development of the lower caudal half of the body.
What is caudal regression syndrome or sacral agenesis. Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Caudal regression syndrome crs is a rare complex congenital anomaly which is characterized by agenesis of the sacral and lumbar spine. Sacral rib is an unusual entity, where an accessory rib arises from the sacral vertebral segments. Caudal regression syndrome europe pmc article europe pmc. Caudal regression syndrome is a condition that is pres ent in approximately 1. Chart of characteristics of sacrs the international. An imaging evaluation is key to the diagnosis of caudal regression syndrome and, while evaluating the images, an assessment of the number of sacral vertebrae and their symmetry should also be made.
This syndrome can manifest as an absence of a few terminal coccy. Since the disorder affects the posterior part of the body, the gastrointestinal, genitourinary, and skeletal systems may be affected. The term caudal regression syndrome comprises several malformations of the caudal spine that range from sacral agenesis to sirenomelia, in which only one leg is present. Caudal regression syndrome, sacral agenesis, vacterl, vater. The caudal regression syndrome in infants of diabetic mothers. Pdf physical therapy in caudal regression syndrome. The outcome was a still born fetus delivered at the gestational age of 22 weeks.
Caudal regression syndrome journal of diagnostic medical. The orthopedic, gastrointestinal, genitourinary and cardiac anomalies are commonly seen with this condition. It occurs at a rate of approximately one per 25,000 live births. Caudal regression syndrome crs is an infrequent disorder first described by geoffroy sainthilaire and hohl in 1852, and in 1964 duhmel coined the term caudal regression syndrome. Caudal regression syndrome is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. Crs is categorized into two types depending on the location and shape of the conus medullaris. In this disorder, the bones of the lower spine vertebrae are frequently misshapen or missing, and the corresponding. The causes of caudal regression syndrome or sacral agenesis might also differ from one individual to another.
Article caudal regression syndrome applied radiology. Caudal regression syndrome pictures, life expectancy. The severity of the morphologic derangement inversely correlates with residual spinal cord function. Anesthesia in caudal regression syndrome request pdf. Lumbosacral hypogenesis is the hallmark of crs 1, 2. Pdf caudal regression syndrome crs, also known as caudal dysplasia syndrome, is a rare malformation that ranges from mild coccygeal. The disorder keeps the caudal region of the body the lower half from forming normally. In this disorder, the bones of the lower spine vertebrae are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. This syndrome can manifest as an absence of a few terminal coccygeal segments to lumbosacral agenesis.
It may affect the lower back including the spinal cord, limbs, genitourinary tract, and the gastrointestinal tract. Diabetes in a pregnant woman maternal diabetes is a known risk factor for crs. Purpose to evaluate the spectrum of developmental anomalies observed in patients with the caudal regression syndrome and relate them to the pathogenesis of this syndrome. Dec 11, 2001 caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. The syndrome of caudal regression was first used by duhamel4 in a paper presented to.
The exact etiology is elusive, though maternal diabetes, genetic factors, and hypoperfusion might play roles. Caudal regression syndrome genetics home reference nih. Maternal diabetes increases the risk of caudal regression. Fenichel, in neonatal neurology fourth edition, 2007. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. The exact etiology is unclear but the maternal insulindependent diabetes mellitus hyperglycaemia during. Recently, the role of teratogens has been studied in animal models. Caudal regression sequence genetic and rare diseases. The caudal regression syndrome is not a single entity but covers several malformations of the caudal spine. Although the name implies that the cord formed properly and then regressed, defects in neural tube closure and. Caudal regression syndrome is a broad term for a rare complex disorder characterized by abnormal development of the lower caudal end of the spine. Dec, 2011 caudal regression syndrome results from abnormal canalization and retrogressive differentiation of the caudal cell mass in the early stages of gestation 3340 days.
It is a congenital disorder in which the fetal development of the lower spinethe caudal partition of the spineis abnormal. Caudal regression syndrome is a birth defect which is believed to be related to low levels of folic acid in the mothers diet during the first trimester of pregnancy. Oct 15, 20 an asymmetric form of the caudal regression syndrome and hypoplastic left lower extremity associated with hypoplasia of muscles and sciatic nerve on the left side. The caudal regression syndrome sir enomelia sequence is a rare congenital malformation syndrome thought to occur prior to the fourth week of fetal develop. Crs is a rare congenital malformation, characterized by the absence of sacrum and. This case raises the question as to whether hyperglycaemia in gck. Sacral agenesis, also called caudal regression syndrome sacrs, is a rare congenital condition in which the lower part of the spine does not fully develop, potentially also impacting the formation and function of lower parts of the body such as the legs and pelvis and organs such as the kidneys. Crs is generally diagnosed at prenatal assessment, commonly in the late second trimester. Caudal regression syndrome represents a spectrum of structural defects of the caudal region. Caudal regression syndrome crs is a rare congenital disorder that occurs when the lowest half of the body caudal does not fully form in utero, resulting in varying degrees of developmental failure including a partially formed or absent lower half of the spine, orthopedic malformations, spinal cord defects, and related motor and sensory. The specific features and severity of the disorder vary among affected people. In 9 of the 19 children the characteristic highending wedgeshaped cord terminus.
Neck torticollis, short neck, shortened vertebrae in neck, see also kippel feil syndrome fused neck vertebrae. Caudal regression syndrome is a genetic disorder that is characterised by impaired development of the posterior tail caudal part of the body. Caudal regression syndrome, or sacral agenesis or hypoplasia of the sacrum, is a rare birth defect. The spine consists of many small bones vertebrae that collectively form the spinal column. Caudal regression syndrome crs, also known as caudal regression sequence, caudal dysplasia, caudal aplasia, femoral hypoplasia, phocomelic diabetic embryopathy, or sacral agenesis, is a spectrum of anomalies involving the caudal end of the trunk.
Chart of characteristics of sacrs caudal regression syndrome. Caudal regression syndrome is a rare congenital defect, characterized by the absence of the sacrum, and defects of variable portions of lumbar spine, associated with anomalies from different systems. Sep 10, 2015 caudal regression syndrome crs may have different causes in different people. In about 15%25% cases, history of maternal diabetes mellitus is present. Severe caudal regression syndrome with overlapping. Caudal regression syndrome crs is a spectrum of caudal anomalies in multiple systems i. Caudal regression syndrome crs was first described by geoffroy sainthilaire and hohl in 1852.
Cases of lower spine agenesis with additional anomalies of the axial skeleton and internal organs are now considered as defects of blastogenesis. Increased blood sugar levels and other associated metabolic problems. Chapter 52 multiple choice obgyn flashcards quizlet. Caudal regression syndrome crs is a rare spinal condition affecting a small portion of learners with physical disabilities. Monochorionic twin pregnancy, during which one of the fetus develops without a heart or upper body, is which one of the following terms.
International sacral agenesis caudal regression assoc. Pdf supporting a learner with caudal regression syndrome. Mody may increase the risk of fetal caudal regression syndrome as reported in women with pre. Anteroposterior and lateral radiographs of the same infant. Kenichi yamamura, division of developmental genetics. Caudal regression syndrome crs is a congenital malformation with a low incidence in the general population. Jul 21, 2011 caudal regression syndrome is an uncommon malformation seen in 0.
Lumbosacral agenesis or caudal regression syndrome. It is a subtype of the caudal regression sequence, a cardinal feature of diabetic embryopathy. Backgound caudal regression syndrome crs is an uncommon disorder in which there is abnormal development of the caudal end of the foetal spine along with many associated anomalies. Crs also referred to as caudal dysplasia and sacral agenesis syndrome is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop. Spinal anomalies, a charecteristic feature of the entity, can vary from isolated partial agenesis of the coccyx to lumbosacral agenesis with involvement of the thoracic spine in the most severe cases. Caudal regression syndrome is a condition that is present in approximately 1. Enable javascript to view the expandcollapse boxes.
Caudal regression syndrome crs involves improper and incomplete development of distal spinal segments. Pelvis, lower extremity, genitourinary, cardiac anomalies and lower extremity neurological and motor development deficits may be accompanied. Caudal regression syndrome musculoskeletal disorders. The spinal column is generally broken down into three segments the cervical spine, consisting of the. Caudal regression syndrome which is also known as sacral agenesis. Caudal regression syndrome radiology reference article. The extreme example is sirenomelia, in which only one leg is present. Crs also referred to as caudal dysplasia and sacral agenesis syndrome is a rare congenital abnormality in which a segment of the. Sep 25, 2017 caudal regression syndrome is a rare congenital disorder. Premature labor is defined as the onset of labor before how many weeks gestation.
Caudal regression syndrome an overview sciencedirect topics. Results the level of vertebral agenesis varied from t11 to s5. Caudal regression syndrome crs may have different causes in different people. Sacral agenesis and occasionally absence of the lumbar and lower thoracic vertebrae caudal aplasiadysplasia. Caudal regression syndrome results from an insult in early pregnancy caudal regression syndrome crs is an infrequent disorder first described by geoffroy sainthilaire and hohl in 1852, and in 1964 duhmel coined the term caudal regression syndrome. Caudal regression syndrome in a fetus of a glucokinase.
This multiple malformation syndrome is a rare congenital anomaly of unknown etiology with a reported incidence varying from 1 to 2. Caudal regression syndrome in twin pregnancy with type ii. Pdf caudal regression syndrome sacral agenesis with. Caudal regression syndrome crs is a complex, heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord.
The etiology is thought to be related to maternal diabetes. The vast majority of cases are sporadic, however, familial cases. The pathogenesis involves abnormal differentiation of the developing spine, spinal cord, and. Although the name implies that the cord formed properly and then regressed, defects in neural tube closure and prosencephalization are often associated features. Sep 09, 2015 caudal regression syndrome is a disorder that impairs the development of the lower caudal half of the body. Caudal regression syndrome is a term used to describe a spectrum of congenital malformations that range from and include. Caudal regression syndrome crs is a rare and severe syndrome in which a segment of the lumbo sacral spine and spinal cord fails to develop. Caudal regression syndrome is a disorder that impairs the development of the. Characteristics of sacral agenesiscaudal regression syndrome chart of characteristics of sacrs these survey results are based on reports of 60 individuals, ages birth to age 55. Caudal regression syndrome crs, a relatively uncommon congenital anomaly, covers a spectrum of lumbosacral deficiencies and a variable extent of neurologic, genitourinary, musculoskeletal, and cardiac abnormalities. Caudal regression syndrome an overview sciencedirect.
However it occurs in about one in 350 infants of diabetic mothers, representing an increase of about 200 times. Caudal regression syndrome types iii and iv conditions and symptoms. Caudal regression is a rare syndrome with a spectrum of structural defects involving multiple organ systems. Caudal regression syndrome crs is a rare fetal complication of diabetic pregnancy, which can result in longterm neurological, urologic, and orthopedic complications. Kei semba and kenichi yamamura division of developmental genetics, institute of resource development and analysis, kumamoto university, kumamoto 8600811, japan corresponding author. Understanding of the mechanism of caudal regression is incomplete, but some cases are clearly genetic in origin lynch et al, 2000. Caudal regression syndrome is characterized by premature termination of the vertebral column. Caudal dysplasia, also known as sacrococcygeal agenesis or the caudal regression syndrome, is a congenital malformation characterized by varying degrees of developmental failure involving the lower lumbar, sacral, and coccygeal vertebrae, and the. Caudal regression syndrome is a rare congenital disorder.
A case of caudal regression syndrome and polyhydraminios that was associated with uncontrolled pregestational diabetes mellitus is presented. Caudal regression syndrome nord national organization. Caudal regression syndrome nord national organization for. How to apply for disability with caudal regression syndrome. Due to the rarity of this condition, there is limited research into. It is also important to evaluate the level and the shape of the cord terminus. In 9 of the 19 children the characteristic highending wedgeshaped. In contrast, the rate of caudal regression is at least 250 times higher in the offspring of diabetic mothers than in nondiabetic pregnancies, and. A case report brian knight, crna, ms c audal regression syndrome crs is a rare, sporadic neural tube defect characterized by incomplete development of terminal spinal segments.
Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Caudal regression syndrome is a rare congenital anomaly with characteristic agenesis or dysgenesis of caudal vertebrae varying from isolated. Caudal regression syndrome results from abnormal canalization and retrogressive differentiation of the caudal cell mass in the early stages of gestation 3340 days. It is thought to be a multifactorial disorder, which means that genetic and environmental factors likely interact to cause crs. We describe a newborn with clinical features of sirenomelia including fused lower limbs with medial position, absence of fibula, anal atresia, bilateral renal agenesis, and a single large. Both genetics and environmental are definite causes of caudal regression syndrome. Methods nineteen children with caudal regression were investigated with mr. Pdf in utero diagnosis of caudal regression syndrome. Caudal regression syndrome is rare, with an estimated incidence of 1.
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