Klippel Feil Syndrome – Presentation and Treatment

The Klippel Feil syndrome is a rare malformation in which there is a congenital fusion of two or more vertebrae in the cervical region.

It manifests 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.

It is also known as congenital synostosis of the cervical vertebrae, or brevicollis.  Klippel and Feil in 1912 described it for first time.

The incidence of Klippel Feil syndrome is reported between 0.2 to 0.71 per thousand. It is more common in females than males.

The condition is more preponderant in the female.

Classification of Klippel Feil Syndrome

There are three morphologic groups of  Klippel Feil Syndrome.

Type I

A massive fusion of the cervical spine [3 or more vertebrae]

Type II

A fusion of 1 or 2 vertebrae

Type III

– Thoracic and lumbar spine anomalies in association with type I or type II

Another classification by Samartzis and colleagues is used for evaluating the prognosis.

• Type I – a single-level fusion
• Type II – Multiple, noncontiguous fused segments
• Type III – Multiple, contiguous fused segments.

Cause of Klippel Feil Syndrome

The exact cause of Klippel Feil syndrome and its associated conditions is not known. The disorder results from failure of normal segmentation of the mesodermal somites during the third to the eighth weeks of fetal life. Genetic cause and fetal insult have been suggested as possible causes.

Presentation of Klippel Feil syndrome

 

 

The diagnosis may be made at any age. Most often the presentation is in the childhood but late presentations are known too.

Those with the involvement of upper cervical spine tend to present at an earlier than those with lower in the cervical spine.

The syndrome can often be detected as an incidental finding.

Clinical manifestations vary according to the severity of the deformity. The symptoms may include

• Short neck [50%]
• Stiffness of the neck [40-50%]
• Low hairline occurs [40-50%]
• Decreased range of motion of the cervical spine
  • Rotational loss more pronounced
  • Flexion-extension less affected
• Webbing of soft tissues on each side of the neck
  • Extends from the mastoid process to the acromion of the shoulders
  • and may involve the muscles and the fascia as well as the skin.
  • Increases the apparent width of the neck
  • Referred to as pterygium colli
• Torticollis and facial asymmetry
  • Due to contracture of the sternocleidomastoid muscle or bony abnormalities.
  • Distinguish from congenital muscular torticollis
• Neurologic problems [20% of patients]
  • Occipitocervical abnormalities the most common cause
• Cervical or cervicothoracic scoliosis [60%]e.
• Cervical spinal stenosis [Rare]
  • Increases the risk of neural involvement.
• Sprengel anomaly or congenital high scapula  – [20-30%]

Associated anomalies

Musculoskeletal System

• Scoliosis
• Sprengel’s deformity
• Torticollis
• Pterygium colli
• Cervical ribs
• Congenital fusion of ribs
• Abnormally contoured joints
• Syndactyly
• Hypoplastic thumbs
• Supernumerary digits
• Absence or hypoplasia of pectoralis major muscle
• Hemiatrophy of upper or lower limb

Urinary system

• Agenesis of kidney
• Horseshoe kidney
• Hydronephrosis
• Tubular ectasia
• Renal ectopia
• Double collecting system

Reproductive System

• Ovarian agenesis
• Absence of vagina

Cardiovascular system

• Interventricular septal defect
• Patent ductus arteriosus
• Coarctation of aorta
• Patent foramen ovale

Pulmonary System

• Ectopic lung
• Agenesis of lung
• Mediastinal bronchogenic cyst

Deafness

•  Hearing loss retards the  development of speech and language

Nervous System

• Synkinesia
  • Mirror motion or involuntary paired movements of the hands
  • Unable to use hands independently
• Spinal cord compression
• Facial nerve palsy
• Rectus palsy
• Ptosis of the eye

Miscellaneous Deformities

• Cleft palate
• Facial nerve palsy
• Rectus muscle palsy
• Ptosis of the eye

Imaging

X-rays are basic investigations 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 levels better especially for surgical planning.

In patients with neurologic deficits magnetic resonance imaging is indicated. MRI can also be 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, the ear should be evaluated in all the cases.

Treatment of Klippel Feil Syndrome

Because Klippel Feil syndrome occurs at different ages with different clinical pictures, the diagnosis and work up is individualized.

Nonorthopedic therapy for Klippel Feil syndrome depends on the congenital anomalies present in the syndrome and treated accordingly.

Orthopedics problems which may require attention are

• Progressive cervical and cervicothoracic deformity
  • Fusion
• Compensatory or associated congenital scoliosis
  • Fusion
• Symptomatic cervical disc herniation
  • Total disc arthroplasty or fusion
• Cervical spine instability
  • Fusion
• Neurologic deficits and persistent pain
  • Decompression and fusion
• Compensatory curve in the thoracic spine
  • Bracing or fusion
• Symptomatic spinal stenosis
  • Decompression
• Webbing of the skin
  • Plastic surgery
• Contracture of the sternocleidomastoid muscle
  • Division or partial excision
• Sprengel’s deformity
  • Surgically restoration