Very few cases have been described in the english literature. Caudal regression syndrome types iii and iv conditions and symptoms. Mar 29, 2020 sacral agenesis, lumbosacral agenesis, and caudal regression syndrome are three terms that are often used interchangeably. 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.
Caudal regression syndrome international sacral agenesis. Caudal regression syndrome is a rare birth defect caused when the caudal or lower end of the spinal cord fails to mature sometime prior to four weeks into the pregnancy. A battle with caudal regression syndrome coconut creek florida. As types iii and iv of caudal regression syndrome result in severe deformities and complications, these forms of the disorder are inherently disabling and therefore medically qualified for social security disability ssd benefits. Caudal regression syndrome results from abnormal canalization and retrogressive differentiation of the caudal cell mass in the early stages of gestation 3340 days. Jul 21, 2011 caudal regression syndrome is an uncommon malformation seen in 0. Although the syndrome is well recognized, the etiology and pathogenetic mechanisms. It involves the lower extremities, the lumbar and coccygeal vertebrae, and. Caudal regression syndrome represents a continuum of congenital malformations ranging from agenesis of the lumbosacral spine to the most severe cases of sirenomelia with lower extremities fusion.
Sacral agenesis refers to a condition in which the sacrum the lowest portion of the spine that forms the joint with the hips fails to form agenesis during fetal development. Sep 10, 2015 caudal regression syndrome crs may have different causes in different people. Caudal regression syndrome also occurs in infants of nondiabetic mothers, so researchers are trying to identify other factors that contribute to the development of this complex disorder. Sacral rib is an unusual entity, where an accessory rib arises from the sacral vertebral segments. Jul 20, 2014 to describe cases of sirenomelia and severe caudal regression syndrome crs, to report the prevalence of sirenomelia, and compare our findings with the literature. Diabetes in a pregnant woman maternal diabetes is a known risk factor for crs. Children affected by more mild forms of the disorder can often live fairly normal lives, while those afflicted with the more severe forms, types iii and iv, suffer major birth defects and.
Caudal regression syndrome or sacral agenesis or hypoplasia of the sacrum is a congenital disorder in which there is abnormal fetal development of the lower spinethe caudal partition of the spine. The treatment of caudal regression syndrome is directed toward the specific. Caudal regression syndrome and social security disability. To describe cases of sirenomelia and severe caudal regression syndrome crs, to report the prevalence of sirenomelia, and compare our findings with the literature. It occurs at a rate of approximately one per 25,000 live births. Caudal regression syndrome crs is a rare fetal complication of diabetic pregnancy, which can result in longterm neurological, urologic, and orthopedic complications. Although the name implies that the cord formed properly and then regressed, defects in neural tube closure and prosencephalization are often. 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. Maternal diabetes increases the risk of caudal regression. Caudal regression syndrome crs is a complex, heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord. Caudal regression syndrome nord national organization for. 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.
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. Caudal regression syndrome an overview sciencedirect topics. Caudal regression syndrome crs is a rare fetal complication of. Caudal regression syndrome crs is a congenital malformation with a low. It is thought to be a multifactorial disorder, which means that genetic and environmental factors likely interact to cause crs. Cases of lower spine agenesis with additional anomalies of the axial skeleton and internal organs are now considered as defects of blastogenesis. Recently, the role of teratogens has been studied in animal models. Can i get disability benefits for caudal regression. We present the case of a 3yearold girl presenting with urinary and bowel. 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.
The international sacral agenesis caudal regression. The exact etiology is elusive, though maternal diabetes, genetic factors, and hypoperfusion might play roles. Caudal regression syndrome an overview sciencedirect. Caudal regression syndrome is a disorder that impairs the development of the lower caudal half of the body. 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. 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. It is also known as caudal dysplasia sequence and sacral agenesis. Caudal regression syndrome is characterized by premature termination of the vertebral column. This may result in various types of anorectal malformations, agenesis of spinal segments sacral or lumbosacral. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
However, in certain cases, clinicians have failed to identify the syndrome due to the lack of apparent. In the most severe cases, the lower limbs are fused sirenomelia. A case of caudal regression syndrome and polyhydraminios that was associated with uncontrolled pregestational diabetes mellitus is presented. 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 congenital vertebral anomaly, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities. Welcome to isacra, the international sacral agenesis caudal regression association. Caudal regression syndrome represents a spectrum of structural defects of the caudal region. As the founder and president of this organization, i am happy to welcome you to this site offering current information, resources, and support for people who have caudal regression syndrome,crs sacral agenesis sa, and their families. Caudal regression syndrome crs is a rare and sporadic disorder. The caudal regression syndrome results from an insult at the early stages of gestation. This multiple malformation syndrome is a rare congenital anomaly of unknown etiology with a reported incidence varying from 1 to 2. Jun 10, 2015 diagnosed with caudal regression syndrome at age 2, ashleys family turned to nationwide childrens hospital.
Richly illustrated and comprehensive in scope, obstetric imaging, 2nd edition, provides uptodate, authoritative guidelines for more than 200 obstetric conditions and procedures, keeping you at the forefront of this fastchanging field. Since the disorder affects the posterior part of the body, the gastrointestinal, genitourinary, and skeletal systems may be affected. Article caudal regression syndrome applied radiology. Sep 25, 2017 caudal regression syndrome is a rare congenital disorder. Caudal regression syndrome, or sacral agenesis or hypoplasia of the sacrum, is a rare birth defect. This syndrome can manifest as an absence of a few terminal coccygeal segments to lumbosacral agenesis. Neuropathic bladder caused by caudal regression syndrome. The specific features and severity of the disorder vary among affected people. Caudal regression syndrome crs involves improper and incomplete development of distal spinal segments. Caudal regression syndrome is secondary to an early gestational insult, earlier than the fourth gestational week. Treatment is difficult, multidisciplinary and largely supportive. Find highquality was born with caudal regression syndrome stock photos and editorial news pictures from getty images. However, such infants require medical assistance in the form of corrective surgical intervention, treatment for urological problems, and supportive.
Caudal regression syndrome is a congenital disorder in which the lower spine does not develop properly in infants in the womb. Caudal regression syndrome in twin pregnancy with type ii. Apr 24, 2018 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 is a complex condition that may have different causes in different people. Chart of characteristics of sacrs the international. The outcome was a still born fetus delivered at the gestational age of 22 weeks. The etiology is thought to be related to maternal diabetes. Some babies are born with very small differences compared to typical development, and others have significant changes.
Caudal regression syndrome is a grave congenital defect, and the absence of surgical care and correction of the deformity and stabilization of the spine has a significant impact on the function of the visceral organs and shortens the life expectancy of the patients. This is common to infants born to diabetic mothers 1. Caudal dysplasia caudal regression syndrome jama network. Some researchers believe that a disruption of fetal development around day 28 of pregnancy causes caudal regression syndrome. How to apply for disability with caudal regression syndrome. Caudal dysplasia, also known as sacrococcygeal agenesis or the caudal regression syndrome, is a congenital malformation characterized by varying degrees. 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. Caudal regression syndrome is a broad term for a rare complex disorder characterized. Applying for ssd with caudal regression syndrome types iii and iv. Pdf the term syndrome of caudal regression was first used by duhamel to. Caudal regression syndrome crs may have different causes in different people. 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.
Was born with caudal regression syndrome stock pictures. Caudal regression syndrome is a rare congenital disorder that encompasses a spectrum of anomalies. Discover how our team pioneered a pediatric procedure to help ashley. Anesthesia in caudal regression syndrome request pdf. Imaging features include a characteristic wedgeshaped cord terminus, as. The specific symptoms and severity of caudal regression syndrome can vary dramatically from one person to another.
The caudal regression syndrome is not a single entity but covers several malformations of the caudal spine. Terms in this set 25 the caudal regression syndrome is found most commonly in patients with which one of the following. Caudal regression syndrome pictures, life expectancy. Crs also referred to as caudal dysplasia and sacral agenesis syndrome is a rare. Caudal regression syndrome is a rare congenital abnormality in which. It is a congenital disorder in which the fetal development of the lower spinethe caudal partition of the spineis abnormal. Caudal regression syndrome or sacral agenesis is a rare disease in babies and reports suggest that 1 out of every 25,000 child is born with this disease. Caudal regression syndrome crs comprises developmental anomalies of the caudal vertebrae, neural tube, urogenital and digestive organs, and hind limbs, the precursors of all of which are derived from the caudal eminence.
The treatment depends, obviously, on the clinical presentation. Characteristics of sacral agenesis caudal regression syndrome chart of characteristics of sacrs these survey results are based on reports of 60 individuals, ages birth to age 55. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. Caudal regression sequence genetic and rare diseases. Sacral defect with anterior meningocele sdam is a form of caudal dysgenesis. Caudal regression syndrome wikipedia republished wiki 2. Caudal regression syndrome crs, also known as caudal regression sequence, caudal dysplasia, caudal apalasia, femoral hypoplasia, phocomelic diabetic embryopathy, or sacral agenesis, is a spectrum of anomalies involving the caudal trunk. 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.
Caudal regression syndrome, also referred to as caudal dysplasia and sacral agenesis syndrome, is a rare congenital malformation characterized by varying degrees of developmental failure early in gestation. Sirenomelia is also a syndrome of sacral agenesis in which the fused lower extremities cause the fetus to resemble a mermaid. Caudal regression syndrome genetics home reference nih. Sep 09, 2015 the currarino syndrome see this term is a form of caudal regression syndrome characterized by the classic triad of presacral mass, sacral bone defect and anorectal malformation in which an autosomal dominant inheritance has been described with mutation or deletion of the hlxb9 gene. It may affect the lower back including the spinal cord, limbs, genitourinary tract, and the gastrointestinal tract. The pathogenesis involves abnormal differentiation of the developing spine, spinal cord, and. Caudal regression syndrome is characterized by premature termination of the. The condition is likely caused by the interaction of multiple genetic and environmental factors. It has a wide spectrum of clinical presentations depending on the severity of the caudal regression. In the newborn period she required phototherapy for 48 hours and was diagnosed with a displaced fracture of the left femur of unknown aetiology, which was reduced with plaster.
Caudal regression syndrome radiology reference article. The most common type, caudal regression syndrome type 1, is our case and is usually associated with motor impairment and deformities of the lower limbs. 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. Caudal regression syndrome is a rare congenital disorder. 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 which is also known as sacral agenesis. Epidemiology caudal regression syndrome is rare, with an estim. The orthopedic, gastrointestinal, genitourinary and cardiac anomalies are commonly seen with this condition. In contrast, the rate of caudal regression is at least 250 times higher in the offspring of diabetic mothers than in nondiabetic pregnancies, and.
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. However it occurs in about one in 350 infants of diabetic mothers, representing an increase of about 200 times. Caudal regression syndrome, secondary to maternal diabetes. We presented 10 cases of caudal regression syndrome crs among the 65 consecutive pediatric cases. Condition characterized by partial or complete absence of sacrum and lower lumbar spine. Caudal regression syndrome is a condition that is present in approximately 1. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis.
Caudal regression syndrome is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop. Caudal regression syndrome is a disorder that impairs the development of. Learn vocabulary, terms, and more with flashcards, games, and other study tools. The disorder keeps the caudal region of the body the lower half from forming normally. As the founder and president of this organization, i am happy to welcome you to this site offering current information, resources, and support for people who have caudal regression syndrome,crs sacral agenesis sa, and. It can vary greatly in severity, ranging from mild to extremely severe. Sacral agenesis and occasionally absence of the lumbar and lower thoracic vertebrae caudal aplasiadysplasia. Caudal regression syndrome musculoskeletal disorders. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. 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 crs was first described by geoffroy sainthilaire and hohl in 1852. In severe cases of caudal regression syndrome or sacral agenesis, there might be a malformed kidney, abnormalities in the genital area, malrotation of intestine etc. This highly regarded reference covers the extensive and ongoing advances in maternal and fetal imaging in a concise, newly streamlined format for quicker. Caudal regression syndrome most likely represents a spectrum of disease ranging from cases with milder symptoms to cases with severe, disabling or potentially lifethreatening complications. Increased blood sugar levels and other associated metabolic problems. The severity of the morphologic derangement inversely correlates with residual spinal cord function. Retrospective data was retrieved from the medical records of infants with the diagnosis. Caudal regression syndrome, or sacral agenesis, is a rare birth defect.
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