Congenital anomalies are the product of errors in
"embryogenesis" (malformations consequent to errors in the
developmental stages of the embryo) or the result of
intrauterine events that affect embryonic and fetal growth
(deformations and disruptions). As a general rule, it is apparent that
the more complex the formation of a structure, the more
opportunities for malformation.
Some of the most serious neurological abnormalities affect the
(conditions that are reviewed elsewhere on this website)
develop in the first two months of gestation and
represent defects in neural tube (the embryonic
precursor of the entire central nervous system) formation. The
medical term for this is "dysraphia".
Some of these affect the Spine and the Spinal Cord as well.
Modern investigative methods, such as
amniocentesis and ultrasonography may provide an
accurate in utero detection of many malformations. Genetic
counseling for parents of a child with a major neurological
abnormality is important, since the risk of a
subsequent child's having such a defect is high. These parents
frequently also need psychological help and support.
WOMEN WHO HAVE HAD A PREGNANCY RESULTING IN AN INFANT OR FETUS
WITH A NEURAL TUBE DEFECT SHOULD BE ADVISED THAT FOLIC ACID
SUPLEMENTATION (4 MG/DAY) BEFORE CONCEPTION AND DURING EARLY
PREGNANCY MAY SUBSTANTIALLY REDUCE THE RISK OF NEURAL TUBE
DEFECTS IN SUBSEQUENT PREGNANCIES.
Congenital deformities of the spine are caused by anomalous
vertebral development in the embryo. Minor malformations
of the spine are seldom apparent and often are
identified only on routine chest films which may be
done in infancy, childhood or later in life for reasons
unrelated to a spine problem.
More severe congenital malformations resulting in
progressive Scoliosis (an abnormal rotation of the Spine)
are even less common than are Idiopathic Scoliosis
("Idiopathic" means "without a known cause").
Congenital Anomalies of the Spine may be simple and
benign, causing no spinal deformity, or they may be
complex, causing severe spinal deformity or even a severe
problem lung and heart problem (Cor Pulmonale) because of the extreme
scoliosis causing a chest deformity or paraplegia.
The 3 major patterns of congenital spinal deformity are
hyperlordosis, kyphosis and scoliosis. Congenital Scoliosis
may have marked rotation (Kyphoscoliosis) or True Kyphosis
in which rotation is not a major component of the
Kyphosis is a progressive spinal disorder that can affect
children or adults which may cause a deformity described as
"humpback" or "hunchback". Kyphosis can
be in the form of "hyperkyphosis" (excessive curvature exceeding the
normal range which occurs in the thoracic spine) or "sharp angular
gibbus" deformity (a form of structural kyphosis in which the
posterior curve is angled sharply rather than smooth.) Abnormal
kyphotic curves are more commonly found in the Thoracic or
Thoracolumbar Spine, although they can be Cervical.
Scheuermann's Disease is juvenile (adolescent) thoracic
kyphosis associated with decreased intervertebral disc space
and vertebral wedging. The classic definition of
Scheuermann's Disease involves anterior (front) wedging of three
consecutive vertebrae to at least 5 degrees. This results in
an excessive thoracic spine curve which makes it very stiff or
rigid. This condition is usually first noticed between
the ages of 12 and 15 years with pain is a common first
complaint. The neck and head may take an abnormally forward
The exact cause is not known, however, there is evidence
that suggests a hereditary component. It affects
females more often than males.
The documents that follow in this Section on Congenital Anomalies
describe some disease states which carry with them some significant
risks to serious Neurological deficits as well as death. The caution
listed below is important.
ALL PATIENTS WITH CONGENITAL CERVICAL FUSION SHOULD AVOID BODY
CONTACT SPORTS AS WELL AS ANY RECREATIONAL ACTIVITIES THAT MAY
PUT THEM AT RISK FOR HEAD TRAUMA.|
THE POTENTIAL FOR CATASTROPHIC OUTCOMES WITH THESE STRUCTURAL
ABNORMALITIES IS VERY REAL AND MUST BE KEPT IN MIND
THROUGHOUT THE LIFE OF THE AFFECTED INDIVIDUAL.
LONG TERM FOLLOW UP IS HIGHLY RECOMMENDED. PATIENTS AND
HIS/HER FAMILY MUST BE CAREFULLY AND FULLY COUNSELLED.
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Voice Mail 800-999-NORD (6673)
Return to Top of Page
This page last edited on 2/19