Klippel-Feil syndrome
Encyclopedia
Klippel–Feil syndrome is a rare disease
, initially reported in 1912 by Maurice Klippel
and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae
.
In fact, "Klippel-Feil syndrome" occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine.
The most common signs of the disorder are a short neck, low hairline at the back of the head, and restricted mobility of the upper spine.
Associated abnormalities may include:
The disorder also may be associated with abnormalities of the head and face, skeleton
, sex organs, muscle
s, brain
and spinal cord
, arms, legs, fingers and a heart defects. These heart defects almost always lead to stunted ages in patients, the average being 35-45 years of age among males and 40-50 among women. This condition is similar to the heart failure seen in gigantism.
A classification scheme for Klippel–Feil syndrome was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, and lumbar spine malformations.
However, recently, Dino Samartzis and colleagues in 2006 proposed 3 classification-types that specifically addressed the cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome.
The prognosis for most individuals with KFS is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided. Anomalies associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
Tutankhamun
is believed by some to have suffered from Klippel–Feil syndrome, though others dispute this claim. A more recent case is the English cricketer Gladstone Small
.
In 2009, archaeologists excavating at a Neolithic
site in northern Vietnam
discovered the remains of a young man with Klippel–Feil syndrome, who had apparently been supported by his subsistence-level community for at least a decade before his death.
Disease
A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...
, initially reported in 1912 by Maurice Klippel
Maurice Klippel
Maurice Klippel was a French physician for whom the conditions Klippel-Feil syndrome and Klippel-Trenaunay-Weber syndrome are named....
and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae
Cervical vertebrae
In vertebrates, cervical vertebrae are those vertebrae immediately inferior to the skull.Thoracic vertebrae in all mammalian species are defined as those vertebrae that also carry a pair of ribs, and lie caudal to the cervical vertebrae. Further caudally follow the lumbar vertebrae, which also...
.
In fact, "Klippel-Feil syndrome" occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine.
Signs and symptoms
Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel–Feil syndrome is a discrete entity, or if it is one point on a spectrum of congenital spinal deformities.The most common signs of the disorder are a short neck, low hairline at the back of the head, and restricted mobility of the upper spine.
Associated abnormalities may include:
- scoliosisScoliosisScoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
(side-to-side curvature of the spine), - spina bifidaSpina bifidaSpina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through...
, - anomalies of the kidneys and the ribRibIn vertebrate anatomy, ribs are the long curved bones which form the rib cage. In most vertebrates, ribs surround the chest, enabling the lungs to expand and thus facilitate breathing by expanding the chest cavity. They serve to protect the lungs, heart, and other internal organs of the thorax...
s, - cleft palate,
- respiratory problems,
- and heartHeartThe heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...
malformations.
The disorder also may be associated with abnormalities of the head and face, skeleton
Skeleton
The skeleton is the body part that forms the supporting structure of an organism. There are two different skeletal types: the exoskeleton, which is the stable outer shell of an organism, and the endoskeleton, which forms the support structure inside the body.In a figurative sense, skeleton can...
, sex organs, muscle
Muscle
Muscle is a contractile tissue of animals and is derived from the mesodermal layer of embryonic germ cells. Muscle cells contain contractile filaments that move past each other and change the size of the cell. They are classified as skeletal, cardiac, or smooth muscles. Their function is to...
s, brain
Brain
The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
and spinal cord
Spinal cord
The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the brain . The brain and spinal cord together make up the central nervous system...
, arms, legs, fingers and a heart defects. These heart defects almost always lead to stunted ages in patients, the average being 35-45 years of age among males and 40-50 among women. This condition is similar to the heart failure seen in gigantism.
Classification
In 1912, Maurice Klippel and Andre Feil independently provided the first descriptions of Klippel-Feil syndrome. They described patients who had a short, webbed neck; decreased range of motion (ROM) in the cervical spine; and a low hairline. Feil subsequently classified the syndrome into 3 categories:- Type I - a massive fusion of the cervical spine
- Type II - the fusion of 1 or 2 vertebrae
- Type III - the presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel-Feil syndrome
A classification scheme for Klippel–Feil syndrome was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, and lumbar spine malformations.
However, recently, Dino Samartzis and colleagues in 2006 proposed 3 classification-types that specifically addressed the cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome.
Treatment
Treatment for Klippel–Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis.Prognosis
The heterogeneity of KFS also has made delineation of diagnostic and prognostic classes difficult and has complicated elucidation of the genetic etiology of the syndrome.The prognosis for most individuals with KFS is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided. Anomalies associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
Genetics
- Pedigree analysis has identified a human genetic locus for the disease.
- Mouse models suggest members of the PAX gene family and Notch signaling pathway as possible etiologic candidates.
- Only by identifying the link between the genetic etiology and the phenotypic pathoanatomy of Klippel–Feil syndrome will we be able to rationalize the heterogeneity of the syndrome.
- Autosomal dominant inheritance is especially associated with C2-C3 fusion.
- Autosomal recessive inheritance is especially associated with C5-C6 fusion.
- Another autosomal dominant form (mapped on locus 8q22.2) known as Klippel–Feil syndrome with laryngeal malformation has been identified. It is also known as Segmentation syndrome 1.
Notable cases
The 18th Dynasty Egyptian pharaohPharaoh
Pharaoh is a title used in many modern discussions of the ancient Egyptian rulers of all periods. The title originates in the term "pr-aa" which means "great house" and describes the royal palace...
Tutankhamun
Tutankhamun
Tutankhamun , Egyptian , ; approx. 1341 BC – 1323 BC) was an Egyptian pharaoh of the 18th dynasty , during the period of Egyptian history known as the New Kingdom...
is believed by some to have suffered from Klippel–Feil syndrome, though others dispute this claim. A more recent case is the English cricketer Gladstone Small
Gladstone Small
Gladstone Cleophas Small is an English former cricketer, who played in seventeen Tests and fifty three ODIs for England....
.
In 2009, archaeologists excavating at a Neolithic
Neolithic
The Neolithic Age, Era, or Period, or New Stone Age, was a period in the development of human technology, beginning about 9500 BC in some parts of the Middle East, and later in other parts of the world. It is traditionally considered as the last part of the Stone Age...
site in northern Vietnam
Vietnam
Vietnam – sometimes spelled Viet Nam , officially the Socialist Republic of Vietnam – is the easternmost country on the Indochina Peninsula in Southeast Asia. It is bordered by China to the north, Laos to the northwest, Cambodia to the southwest, and the South China Sea –...
discovered the remains of a young man with Klippel–Feil syndrome, who had apparently been supported by his subsistence-level community for at least a decade before his death.
External links
- http://www.cafamily.org.uk/Direct/k20.htmlKlippel-Feil syndrome in the Contact a Family DirectoryContact a FamilyContact a Family is a UK-based registered charity for families with disabled children offering support, advice and information regardless of the child's medical condition or situation. As well as supporting families the charity supports those who assist the families, including medical and...
] - Regroupement francophone international Klippel-Feil