Caudal regression syndrome
Encyclopedia
Caudal regression syndrome or sacral agenesis (or hypoplasia
of the sacrum
) is a little-known and rare congenital disorder
in which there is abnormal fetal development
of the lower spine
—the caudal partition of the spine.
It occurs at a rate of approximately one per 25,000 live births.
of lower extremities) and incontinence
.
Depending on the type of sacral agenesis, bowel or urinary bladder deficiencies may be present. A permanent colostomy
may be necessary in the case of imperforate anus
. Incontinence may also require some type of continence control system (e.g. self-catheterization) be utilized. Occasionally if deformities of the knees, legs or feet would prove unresponsive to corrective action, amputation at the knee may be proposed.
Before more comprehensive medical treatment was available, full amputation of the legs at the hip was often performed. More recently, the 'amputation' (actually a disarticulation because no cutting of the bone is involved) is done at the knee for those who have bent knee positions and webbing between thigh and calf to enable more ease of mobility and better seating. Some children with knee disarticulation use prosthetic legs to walk. Prosthetics for children without substantial hip and trunk
control is usually abandoned in favor of faster and easier wheelchair mobility as the child's weight and age increases. Children may 'walk' on their hands and generally are able to climb and move about to accomplish whatever they need and want to accomplish. Children more mildly affected may have normal gait and no need for assistive devices for walking. Others may walk with bracing or crutches.
There is typically no cognitive impairment associated with this disability. Adults with this disability live independently, attend college, and have careers in various fields.
.
Sacral agenesis syndrome (agenesis of the lumbar spine, sacrum, and coccyx, and hypoplasia of the lower extremities) is a well-established congenital anomaly associated with maternal diabetes mellitus (not gestational diabetes
). However, other etiologic factors are presumably involved, as demonstrated by the rare incidence of caudal regression syndrome (1:60,000) compared to diabetes. Certainly not all children born with Caudal Regression Syndrome have diabetic mothers.
The dominant inherited sacral agenesis (also referred to as Currarino syndrome
) is very often correlated with a mutation
in the Hb9 (also called HlxB9) gene (shown by Sally Ann Lynch, 1995, Nature Genetics).
It may be the cause of sirenomelia
("Mermaid Syndrome").
Hypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
of the sacrum
Sacrum
In vertebrate anatomy the sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx...
) is a little-known and rare congenital disorder
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
in which there is abnormal fetal development
Fetal development
Prenatal or antenatal development is the process in which a human embryo or fetus gestates during pregnancy, from fertilization until birth. Often, the terms fetal development, foetal development, or embryology are used in a similar sense.After fertilization the embryogenesis starts...
of the lower spine
Vertebral column
In human anatomy, the vertebral column is a column usually consisting of 24 articulating vertebrae, and 9 fused vertebrae in the sacrum and the coccyx. It is situated in the dorsal aspect of the torso, separated by intervertebral discs...
—the caudal partition of the spine.
It occurs at a rate of approximately one per 25,000 live births.
Signs
It can lead to a variety of medical problems ranging from partial absence of the tail bone regions of the spine to more severe cases involving major malformation of the lower vertebrae, pelvis and spine. Minor cases may be more or less without symptom, whereas severe cases may come with major birth defects, neurological impairment (i.e. Flaccid paralysisFlaccid paralysis
Flaccid paralysis is a clinical manifestation characterized by weakness or paralysis and reduced muscle tone without other obvious cause .-Polio:...
of lower extremities) and incontinence
Urinary incontinence
Urinary incontinence is any involuntary leakage of urine. It is a common and distressing problem, which may have a profound impact on quality of life. Urinary incontinence almost always results from an underlying treatable medical condition but is under-reported to medical practitioners...
.
Prognosis
There are four levels (or "types") of malformation. The least severe indicates partial deformation (unilateral) of the sacrum. The second level indicates a bilateral (uniform) deformation. The most severe types involve a total absence of the sacrum.Depending on the type of sacral agenesis, bowel or urinary bladder deficiencies may be present. A permanent colostomy
Colostomy
A colostomy is a surgical procedure in which a stoma is formed by drawing the healthy end of the large intestine or colon through an incision in the anterior abdominal wall and suturing it into place. This opening, in conjunction with the attached stoma appliance, provides an alternative channel...
may be necessary in the case of imperforate anus
Imperforate anus
An imperforate anus or anal atresia is a birth defect in which the rectum is malformed. Its cause is unknown.-Features:There are several forms of imperforate anus:* A low lesion, in which the colon remains close to the skin...
. Incontinence may also require some type of continence control system (e.g. self-catheterization) be utilized. Occasionally if deformities of the knees, legs or feet would prove unresponsive to corrective action, amputation at the knee may be proposed.
Before more comprehensive medical treatment was available, full amputation of the legs at the hip was often performed. More recently, the 'amputation' (actually a disarticulation because no cutting of the bone is involved) is done at the knee for those who have bent knee positions and webbing between thigh and calf to enable more ease of mobility and better seating. Some children with knee disarticulation use prosthetic legs to walk. Prosthetics for children without substantial hip and trunk
Trunk
Trunk may refer to:In biology:*Trunk, an elephant's proboscis or nose*Trunk, torso*Trunk , a tree's central superstructureIn containers:*Trunk , a large storage compartment*Trunk...
control is usually abandoned in favor of faster and easier wheelchair mobility as the child's weight and age increases. Children may 'walk' on their hands and generally are able to climb and move about to accomplish whatever they need and want to accomplish. Children more mildly affected may have normal gait and no need for assistive devices for walking. Others may walk with bracing or crutches.
There is typically no cognitive impairment associated with this disability. Adults with this disability live independently, attend college, and have careers in various fields.
Etiology
The condition arises from some factor or set of factors present during approximately the 3rd week to 7th week of fetal development. Formation of the sacrum/lower back and corresponding nervous system is usually nearing completion by the 4th week of development. Due to abnormal gastrulation, the mesoderm migration is disturbed. This disturbance results in symptoms varying from minor lesions of the lower vertebrae to more severe symptoms such as complete fusion of the lower limbs. While the exact etiology is unknown, it has been speculated that the condition may be associated with certain dietary deficiencies including a lack or insufficient amounts of folic acidFolic acid
Folic acid and folate , as well as pteroyl-L-glutamic acid, pteroyl-L-glutamate, and pteroylmonoglutamic acid are forms of the water-soluble vitamin B9...
.
Sacral agenesis syndrome (agenesis of the lumbar spine, sacrum, and coccyx, and hypoplasia of the lower extremities) is a well-established congenital anomaly associated with maternal diabetes mellitus (not gestational diabetes
Gestational diabetes
Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy . It is widely accepted as a disease only in the United States, there is some question whether the condition is natural during pregnancy...
). However, other etiologic factors are presumably involved, as demonstrated by the rare incidence of caudal regression syndrome (1:60,000) compared to diabetes. Certainly not all children born with Caudal Regression Syndrome have diabetic mothers.
The dominant inherited sacral agenesis (also referred to as Currarino syndrome
Currarino syndrome
The Currarino syndrome is an inherited congenital disorder where the sacrum is not formed properly, there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum...
) is very often correlated with a mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
in the Hb9 (also called HlxB9) gene (shown by Sally Ann Lynch, 1995, Nature Genetics).
It may be the cause of sirenomelia
Sirenomelia
Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail....
("Mermaid Syndrome").
Synonyms
Synonyms for CRS:- Caudal dysplasia
- Caudal dysplasia sequence
- Congenital sacral agenesis
- Sacral regression
- Lumbo sacral agenesis
External links
- https://sites.google.com/site/caudalregressionsyndrome
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Caudal+Regression+Syndrome
- http://www.phreeque.com/johnny_eck.html
- http://www.mymultiplesclerosis.co.uk/misc/rosesigginsbaby.html
- http://www.phreeque.com/kenny.html
- http://abcnews.go.com/2020/story?id=124269&page=1