Klippel-Feil syndrome is a complex disorder characterized by improper fusion of cervical vertebrae at C2 and C3, resulting from a failure in the normal segmentation or division of the cervical spine vertebrae during the early stages of fetal development.
This syndrome is distinguished by a low hairline, facial asymmetry, restricted neck motion, and a short neck. The anomalies can cause persistent headaches, a restricted range of motion in the neck, and pain in the neck musculature.
Unlike these comparatively milder symptoms, it can also cause some severe symptoms such as:
Neurological deficits
Spinal Stenosis
Cervical spine instability and deformity
Individuals can also present with multiple symptoms at once.
Epidemiology
Klippel-Feil syndrome was initially documented in 1912 by Andre Feil and Maurice Klippel. This syndrome occurs in roughly 1 in 40,000 to 42,000 infants globally and is slightly more common in girls.
A 2% incidence of this condition was observed on an MRI in a global population sample of 458 individuals. In another study by Brown et.al 1400 skeletons were reviewed, and the incidence was observed to be 0.71%.
It is vital to realize that asymptomatic pediatric patients, who do not receive cervical MRI and do not present with a physical deformity, will probably go undiagnosed into their adulthood.
Anatomy
Pathophysiology
Etiology
The etiology of this syndrome is still not definite. According to several studies, it has been hypothesized that the following factors are generally responsible:
Genetic factors
Primary neural tube complications
Vascular disruption
Global fetal insult
Other complications generally accompanied by this condition include:
Sprengel deformity
Fetal alcohol syndrome
Goldenhar syndrome
Some familial mutations in the MEOX1, GDF3, and GDF6 genes are known to cause this condition. The GDF6 gene is involved in bone development and the GDF3 gene is involved in the formation of bones.
Additionally, the MEOX1 gene causes the production of the homeobox protein MOX1 — which regulates vertebral separation. GDF6 and GDF3 anomalies are dominantly inherited, whereas MEOX1 mutations are recessively inherited.
Genetics
Prognostic Factors
Symptoms are more common with Klippel-Feil syndrome patients who have a spinal fusion above C3. The prognosis of this disease is associated with the degree of its severity, classified by the Samartzis classification system.
Type I means a single-level congenital fusion of the cervical segment. Type II includes multiple, non-contiguous congenitally fused segments, and Type III patients have multiple, contiguous congenitally fused segments in the cervical region.
In this study, it was noted that over 8 years, only 1/3rd of patients had symptoms. Individuals with a type-I deformity presented with axial symptoms, and the those with type II and III developed radiculopathy and myelopathy.
Clinical History
Physical Examination
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
by Stage
by Modality
Chemotherapy
Radiation Therapy
Surgical Interventions
Hormone Therapy
Immunotherapy
Hyperthermia
Photodynamic Therapy
Stem Cell Transplant
Targeted Therapy
Palliative Care
Medication
Future Trends
Media Gallary
References
https://www.ncbi.nlm.nih.gov/books/NBK493157/
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Klippel-Feil syndrome is a complex disorder characterized by improper fusion of cervical vertebrae at C2 and C3, resulting from a failure in the normal segmentation or division of the cervical spine vertebrae during the early stages of fetal development.
This syndrome is distinguished by a low hairline, facial asymmetry, restricted neck motion, and a short neck. The anomalies can cause persistent headaches, a restricted range of motion in the neck, and pain in the neck musculature.
Unlike these comparatively milder symptoms, it can also cause some severe symptoms such as:
Neurological deficits
Spinal Stenosis
Cervical spine instability and deformity
Individuals can also present with multiple symptoms at once.
Klippel-Feil syndrome was initially documented in 1912 by Andre Feil and Maurice Klippel. This syndrome occurs in roughly 1 in 40,000 to 42,000 infants globally and is slightly more common in girls.
A 2% incidence of this condition was observed on an MRI in a global population sample of 458 individuals. In another study by Brown et.al 1400 skeletons were reviewed, and the incidence was observed to be 0.71%.
It is vital to realize that asymptomatic pediatric patients, who do not receive cervical MRI and do not present with a physical deformity, will probably go undiagnosed into their adulthood.
The etiology of this syndrome is still not definite. According to several studies, it has been hypothesized that the following factors are generally responsible:
Genetic factors
Primary neural tube complications
Vascular disruption
Global fetal insult
Other complications generally accompanied by this condition include:
Sprengel deformity
Fetal alcohol syndrome
Goldenhar syndrome
Some familial mutations in the MEOX1, GDF3, and GDF6 genes are known to cause this condition. The GDF6 gene is involved in bone development and the GDF3 gene is involved in the formation of bones.
Additionally, the MEOX1 gene causes the production of the homeobox protein MOX1 — which regulates vertebral separation. GDF6 and GDF3 anomalies are dominantly inherited, whereas MEOX1 mutations are recessively inherited.
Symptoms are more common with Klippel-Feil syndrome patients who have a spinal fusion above C3. The prognosis of this disease is associated with the degree of its severity, classified by the Samartzis classification system.
Type I means a single-level congenital fusion of the cervical segment. Type II includes multiple, non-contiguous congenitally fused segments, and Type III patients have multiple, contiguous congenitally fused segments in the cervical region.
In this study, it was noted that over 8 years, only 1/3rd of patients had symptoms. Individuals with a type-I deformity presented with axial symptoms, and the those with type II and III developed radiculopathy and myelopathy.
https://www.ncbi.nlm.nih.gov/books/NBK493157/
medtigo
Klippel-Feil Syndrome
Updated :
July 25, 2022
Klippel-Feil syndrome is a complex disorder characterized by improper fusion of cervical vertebrae at C2 and C3, resulting from a failure in the normal segmentation or division of the cervical spine vertebrae during the early stages of fetal development.
This syndrome is distinguished by a low hairline, facial asymmetry, restricted neck motion, and a short neck. The anomalies can cause persistent headaches, a restricted range of motion in the neck, and pain in the neck musculature.
Unlike these comparatively milder symptoms, it can also cause some severe symptoms such as:
Neurological deficits
Spinal Stenosis
Cervical spine instability and deformity
Individuals can also present with multiple symptoms at once.
Klippel-Feil syndrome was initially documented in 1912 by Andre Feil and Maurice Klippel. This syndrome occurs in roughly 1 in 40,000 to 42,000 infants globally and is slightly more common in girls.
A 2% incidence of this condition was observed on an MRI in a global population sample of 458 individuals. In another study by Brown et.al 1400 skeletons were reviewed, and the incidence was observed to be 0.71%.
It is vital to realize that asymptomatic pediatric patients, who do not receive cervical MRI and do not present with a physical deformity, will probably go undiagnosed into their adulthood.
The etiology of this syndrome is still not definite. According to several studies, it has been hypothesized that the following factors are generally responsible:
Genetic factors
Primary neural tube complications
Vascular disruption
Global fetal insult
Other complications generally accompanied by this condition include:
Sprengel deformity
Fetal alcohol syndrome
Goldenhar syndrome
Some familial mutations in the MEOX1, GDF3, and GDF6 genes are known to cause this condition. The GDF6 gene is involved in bone development and the GDF3 gene is involved in the formation of bones.
Additionally, the MEOX1 gene causes the production of the homeobox protein MOX1 — which regulates vertebral separation. GDF6 and GDF3 anomalies are dominantly inherited, whereas MEOX1 mutations are recessively inherited.
Symptoms are more common with Klippel-Feil syndrome patients who have a spinal fusion above C3. The prognosis of this disease is associated with the degree of its severity, classified by the Samartzis classification system.
Type I means a single-level congenital fusion of the cervical segment. Type II includes multiple, non-contiguous congenitally fused segments, and Type III patients have multiple, contiguous congenitally fused segments in the cervical region.
In this study, it was noted that over 8 years, only 1/3rd of patients had symptoms. Individuals with a type-I deformity presented with axial symptoms, and the those with type II and III developed radiculopathy and myelopathy.
https://www.ncbi.nlm.nih.gov/books/NBK493157/
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