The Klippel-Feil syndrome is also known as congenital synostosis of the cervical vertebrae, or brevicollis. It is a rare malformation in which there is congenital fusion of two or more vertebrae in the cervical region.
It is manifested clinically by
- Shortening of the neck
- Limitation of neck motion
- Low posterior hairline.
There is a risk of less apparent but serious 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 in a 46 year old French tailor who died of renal disease.
There are three morphologic groups of distinguished between three morphologic groups Klippel-Feil Syndrome.
Type I
There is massive fusion of many cervical and upper thoracic vertebrae with synostosis
Type II
The fusion is at only one or two interspaces, with hemivertebrae, occipito-atloid fusions, and other anomalies present in some; and in
Type III
Cervical fusions are associated with lower thoracic or upper lumbar fusions.
Clinical Features and Associated Anomalies
This disorder results from failure of normal segmentation of the mesodermal somites during the third to the eighth weeks of fetal life. The exact cause is still subject to conjecture. .
The condition is more preponderant in the female.
Clinical manifestations vary according to the severity of the deformity. Diagnosis may be made at any age.
If only two or three cervical vertebrae are fused, the anomaly may be incidentally discovered on radiographic examination.
In the more involved cases, the neck is short, the head appearing to sit directly on the thorax, and the posterior hairline is low. There is marked limitation of motion of the cervical spine.
Flexion and extension are better preserved than lateral motion of the neck. 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 sholders, 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.
In some patients there is associated torticolis, which may be due either to
- contracture of the sternocleidomastoid muscle or
- bony abnormalities.
Torticollis is usually associated with fascial asymmetry.
Sprengel deformity or high scapula is a common accompaniment to the Klippel-Feil syndrome.
Other congenital anomalies of the musculoskeletal system 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.
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.
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