The Klippel Feil syndrome is also known as congenital synostosis of the cervical vertebrae, or brevicollis. In this syndrome, there is a rare malformation in which there is congenital fusion of two or more vertebrae in the cervical region.
Klippel Feil syndrome is manifested clinically by shortening of the neck, limitation of neck motion and low posterior hairline.
Klippel Feil syndrome also has a risk of accompanying abnormalities of the genitourinary, cardiopulmonary and nervous systems.
The first complete clinical description of this syndrome was given by Klippel and Feil in 1912.
There are three morphologic groups of Klippel Feil Syndrome.
- Type I – a massive fusion of the cervical spine
- Type II – the fusion of 1 or 2 vertebrae
- Type III – There are thoracic and lumbar spine anomalies in association with type I or type II Klippel-Feil syndrome
Samartzis and colleagues suggested their classification system that is used for evaluating the prognosis.
- Type I – a single-level fusion
- Type II – Multiple, noncontiguous fused segments
- Type III – Multiple, contiguous fused segments.
The true incidence of Klippel-Feil syndrome is unknown but indirect measures point the incidence between 0.2 to 0.71 per thousand.
The condition is more preponderant in the female.
The etiology of Klippel Feil syndrome and its associated conditions is unknown. Genetic cause and fetal insult have been suggested as possible causes. This disorder results from failure of normal segmentation of the mesodermal somites during the third to the eighth weeks of fetal life.
Presentation of Klippel Feil syndrome
Clinical manifestations vary according to the severity of the deformity. Diagnosis may be made at any age. The usual presentation is in childhood but it could be later in life too.It can often be detected as incidental finding. Those with involvement of upper cervical spine tend to present at an earlier than those with lower in the cervical spine.
Short neck, stiffness of the neck and low hairline occurs in 40-50% of patients. Decreased range of motion of cervical spine especially the rotation is the most frequent clinical finding. Rotational loss usually is more pronounced than is the loss of flexion and extension. This is because these movements take place mostly between the occiput and atlas.
There is webbing of soft tissues on each side of the neck, extending from the mastoid process to the acromion of the shoulders, which is referred to as “pterygium colli.” Webbing increases the apparent width of the neck and may involve the muscles and the fascia as well as the skin.
Torticolis may be due either to contracture of the sternocleidomastoid muscle or bony abnormalities.
Neurologic problems may develop in 20% of patients. Occipitocervical abnormalities were the most common cause of neurologic problems.
Cervical or cervicothoracic scoliosis is found in about 60 percent patients of Klippel Feil Syndrome.
Rarley, cervical spinal stenosis can occur which increases the the risk of neurologic involvement.
Sprengel anomaly [Congenital high scapula] occurs in 20-30% of patients.
Other congenital anomalies of the musculoskeletal system in Klippel Feil Syndrome may occur, such as cervical ribs, congenital fusion of ribs, abnormal costovertebral joints, syndactyly, hypoplastic thumbs, supernumerary digits, hypoplasia of the pectoralis major muscle, hemiatrophy of the upper or lower limbs, talipes equinovarus, and sacral agencies.
Urinary tract abnormalities are common and include agenesis of the kidney, horseshoe kidney, hydronephrosis, tubular ectasia, renal ectopia, and double collecting system.
Therefore Intravenous pyelography is vital in assessment of the Klippel Feil syndrome.
Cardiovascular abnormalities may be associated with the Klippel Feil syndrome in 4.2 percent. Intervertricular septal defect is the most common cardiac anomaly. Other abnormalities reported are patent ductus arteriosus, coarctation of the aorta, and patent foramen ovale.
There could be other visceral abnormalities like ectopic lung, agenesis of lung, mediastinal bronchogenic cyst, ovarian agenesis, and absence of the vagina.
A complete list of anomalies is given below
List of Anomalies associated with Klippel Feil Syndrome
Deafness is common in Klippel-Feil disease. All types of hearing loss have been described. There is no characteristic audiologic anomaly. Hearing loss will retard development of speech and language.
Synkinesia may occur in the Klippel-Feil syndrome. It consists of involuntary paired movements of the hands (mirror motion) the patient is unable to move the hands independently.
A neurologic deficit due to compression of the spinal cord or nerve roots may occur. Facial nerve palsy, rectus muscle palsy, ptosis of the eye, and cleft palate may accompany the Klippel-Feil syndrome.
Plain radiography is the basis for the diagnosis of Klippel-Feil syndrome.
AP and lateral views of the cervical spine are the standard views. If anomalies are found or suspected, careful assessment of the craniocervical junction by other imaging modalities is necessary to detect anomalies at that level.
Flexion-extension radiographs are indicated if instability is suspected at the craniocervical junction or if 2 fused segments are separated by an open segment. Plain radiographs of the entire spine must be obtained to detect other spinal anomalies.
Chest x-ray for multiple rib fusions, also is necessary. ECG and echocardiography may be done to rule out cardiac involvement.
CT scanning with 3-dimensional reconstruction is done to evaluate the involved spinal elevels better especially for surgical planning.
In patients with neurologic deficits magnetic resonance imaging is indicated. MRI can also used to reveal any central nervous system anomalies, like syringomyelia.
Ultrasonography of the kidneys is indicated to screen for renal anomalies and if required may be followed by urological studies.
Because of the high incidence of hearing loss with Klippel-Feil syndrome, ear should be evluated in all the cases.
Radiological examination is important in establishing a diagnosis and in determining the extent of the deformity.
The cervical vertebrae are often obscured by the overlapping occiput and mandible; not infrequently, one may have to resort to laminography for proper visualization.
Treatment of Klippel Feil Syndrome
Because Klippel Feil syndrome occur at different ages with different clinical picture, the diagnosis and work up is indvidualized.
Non orthopedic therapy for Klippel Feil syndrome depends on the congenital anomalies present in the syndrome and treated accordingly.
Orthopedics problems which may require attention are [Treatment is indicated in parenthesis]
- Progressive cervical and cervicothoracic deformity [requiring fusion]
- Compensatory or associated congenital scoliosis, which also can be progressive over time and requires fusion to prevent progressive deformity.
- Symptomatic cervical disc herniation. [requiring total disc arthroplasty or fusion]
- Cervical spine instability [requiring fusion]
- Neurologic deficits and persistent pain[Decompression and fusion]
- Development of a compensatory curve in the thoracic spine[Bracing or fusion]
- Symptomatic spinal stenosis [Decompression]
- Webbing of the skin that exaggerates the deformity [plastic procedures.]
- Contracture of the sternocleidomastoid muscle [division or partial excision.]
- Sprengel’s deformity[Surgically restoration]
Get more stuff on Musculoskeltal Health
Subscribe to our Newsletter and get latest publications on Musculoskeletal Health your email inbox.
Thank you for subscribing.