Summary: KFS or
Klippel-Feil Syndrome is characterized by congenital musculo-skeletal
deformities with multiple disability of body as well as brain in addition to
multiple variations of body involvements. Some features may resemble many
Psychological and/or Neurodevelopmental disabilities like CP. This a
relatively very rare disorder, and we at UDAAN have not handled any such
fully diagnosed case till date. Last updated January 21, 2007
UDAAN received a query on KFS, one of a group of
congenital musculo-skeletal deformities with multiple disability of body as well
as brain. This page is a summary of the answer sent to the mother of the
affected child.
Description
KFS, described by Klippel and Feil in 1912, comprises three characteristic
deformities: a short neck, a low dorsal hairline, restricted neck mobility. It
may be associated with variants of cerebral palsy, mental retardation, and a
wide variety of other physical deformities.
It is the result of synostosis (joining) of several cervical (neck)
vertebrae, which may or may not be deformed. Other associated abnormalities
reported include those related to urological (urinary system), neurological
(brain and spinal cord) , cardiopulmonary (heart and lung) and locomotor (bone
and joints including muscles and tendons) deformities, which significantly
increase the morbidity.
Cause
There is a hypothesis that KFS could be the result of an interruption of the
early embryonic blood supply in the subclavian (shoulder) arteries, the
vertebral (neck) arteries and/or their branches. It is supposed that the
occlusions occur at specific locations in these vessels during or around the
sixth week of embryologic development and produce predictable patterns of
defects.
Variants and Complications
Variuos workers have collected different series of disabilities and
deformities associated with KFS.
Radiological (X-ray) abnormalities of the cervical spine
a reduction in the number of cervical vertebrae,
fused vertebral blocks
cervical spine-bifida occulta,
spinal dysraphism
Regional abnormalities:
craniocervical junction abnormalities
cervico-thoracic abnormalities
thoraco lumbar abnormalities
Other orthopedic (bone related) deformities include:
scoliosis
cervico-occipital instabilities
Sprengel's deformities
omovertebral bone
scoliosis
hypoplasia of thumb
plagiocephaly
concavity of the thorax
choanal atresia
Other disabilities
Diamond-Blackfan anemia
pterygium colli
conductive hearing impairment of ear
Similar disorders
KFS syndrome is somewhat similar to other birth deformities like Wilderwanck
syndrome and Goldenhar.
Management
A multidisciplinary approach and treatment are therefore required. These
include:
Corrective surgery,
cervical fusion for hypermobility,
fusion to treat scoliosis
cervical rib resection
Sprengel deformity correction.
cosmetic surgery: limited scope due to inborn skeletal abnormalities
Other surgeries that may be needed
Cardiac reconstrictive surgery
Ureter reinsertion to correct vesico-ureteral reflux.
Medical Therapy
There is no specific medical therapy. However, individual cases may suffer
from epilepsy, spastic / atonic muscles, physical and behavioral developmental
defects. These will require specific anti-epileptic drugs, physiotherapy,
behavioral modification and social rehabilitation at specific centers. KFS is
many folds less understood than even Cerebral palsy. It is therefore essential
for every state/district to have interested groups of guardians coming together
to build up their own voluntary associations for mutual guidance.
Acknowledgement
The above details have been abstracted from the following
sources:
The so-called Klippel-Feil syndrome and its orthopedic incidences [French]
by Chaumien JP et al; Rev Chir Orthop Reparatrice Appar Mot, 1990, 76:1,
30-8
Klippel-Feil syndrome. An unusual association with Sprengel deformity,
omovertebral bone, and other skeletal, hematologic, and respiratory
disorders. A case report. [English] by Greenspan A et al; Bull Hosp Jt Dis
Orthop Inst, 1991 Spring, 51:1, 54-62
Klippel-Feil syndrome with conductive deafness and histological findings
of removed stapes. [English] by Sakai M et al; Ann Otol Rhinol Laryngol,
1983 Mar-Apr, 92:2 Pt 1, 202-6
Subclavian artery supply disruption sequence: hypothesis of a vascular
etiology for Poland, Klippel-Feil, and Möbius anomalies. [English] by
Bavinck JN et al; Am J Med Genet, 1986 Apr, 23:4, 903-18
The Klippel-Feil syndrome: a constellation of deformities. [English] by
Van Kerckhoven MF et al; Acta Orthop Belg, 1989, 55:2, 107-18
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