It is defined as a congenital fusion of 2 or more cervical vertebrae. Klippelfeil syndrome kfs, also known as cervical vertebral fusion syndrome, is a rare. In some circumstances, klippel feil syndrome occurs as a feature of another disorder, such as wildervanck syndrome or hemifacial microsomia. Cervical vertebral fusion, congenital cervical synostosis, isolated klippelfeil syndrome, kfs in 1912, klippel and feil 1 first reported on a patient with a short neck, a low posterior hairline, and severe restriction of neck movements due to complete fusion of. Klippel feil syndrome kfs, also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck cervical vertebrae 578 it results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline.
Guadalupe trevinoalanis1,2, sergio salazarmarioni2, hector martinezmenchaca2, y gerardo riverasilva1,2 resumen maurice klippel y andre feil describieron por primera vez en 1912 este padecimiento. Congenital fusion can be seen occurring at any level in the cervical spine, in up to 75% of cases fusion is seen to effect the first three cervical vertebrae 1,2. Klippel feil syndrome is a very rare medical disorder that presents with a triad of short webbed neck, limited range of motion of the cervical spine and a low hair line. Klippelfeil syndrome freedom improving the lives of. Klippelfeil syndrome nord national organization for rare. She had midfacial hypoplasia with a low nasal root, a short nasal septum, a long philtrum, a thin upper lip, micrognathia, a low posterior hairline, a short and broad neck. Scribd is the worlds largest social reading and publishing site. Klippelfeil syndrome with sprengel deformity radiology.
Audiological abnormalities in the klippelfeil syndrome. Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the. Answer i do not know of any specific research on speech deficits with klippel feil, but such genetic disorders this one affecting cervical vertebrae can be expected to be associated with other difficulties. Journal of the canadian dental association november 2004, vol.
Files are available under licenses specified on their description page. Klippel feil syndrome kfs is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column vertebrae within the neck cervical vertebrae. Klippelfeil syndrome kfs is defined as a short neck with decreased movement and low posterior hairline. The neck is frog like and so short that the individual may appear to have no neck at all. Pdf klippel feil syndrome associated with congential. Cervical vertebral fusion, congenital cervical synostosis, isolated klippelfeil syndrome, kfs. Children with the disorder may have a short, webbed neck, decreased range of motion in the head and neck area, and fusions in the thoracic spine causing scoliosis andor kyphosis. Movements of the elbow joint are unusually free, although extension may be limited. In 1912, klippel and feil 1 first reported on a patient. Two patients with two adjacent levels of bony fusion showed a waspwaist sign. Klippel feil syndrome kfs is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck.
We are an organization working to help you navigate life with kfs, a rare spine disorder. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Klippel feil syndrome first was described by klippel and feil in 1975. When a patient has several fused vertebrae like in klippel feil syndrome, the risk of osteoarthritic changes is increased because of the immobile joint. Article pdf available in clinical and experimental rheumatology 274. Nevertheless physical therapy in combination with nonsteroidal medications could be useful to prevent degenerative changes. If you know something i dont, please let me know, because only together we can spread the word and raise awareness. We are a vibrant, active community, advocating globally to increase awareness, advance research, and improve care for kfs patients of all ages. The paindetect questionnaire pdq is a screening tool for. Apr 03, 2019 klippel feil syndrome is detected throughout life, often as an incidental finding. In 1912, klippel and feil described the pathologic anatomy of the absence of the neck in a 46yearold man.
Five patients were found to have the classic features of massive cervical fusion. In these cases, affected people have the symptoms of both klippel feil syndrome and the additional ailment. The association of deafness with the klippel feil syndrome has been previously described and we here present 3 additional cases. Article information, pdf download for malformazione complessa dellorecchio interno a tipo mondini. Klippelfeil syndrome kfs, also known as cervical vertebral fusion syndrome, is a rare condition present at birth congenital disease characterized by the abnormal joining of any two of the seven bones in the neck cervical vertebrae. Cervical spine radiographs of 33 patients with klippel feil syndrome were studied for patterns of bony fusion and presence of waspwaist sign. The syndrome is difficult to diagnose, as it occurs in. Klippel feil syndrome genetic and rare diseases information. In other, more severe cases, an individual can end up paralyzed after a small trauma to the neck or spine, so extreme care must be taken in all activities.
Klippelfeil syndrome forms in utero when genes gdf6 or gdf3 mutate. In this segmentation defect there is fusion of two or more cervical vertebrae. Cervical synostosis associated with downs syndrome and. It is a congenital anomaly characterized by a classid triad including short neck, low. Jun 27, 2016 the scoliosis sos clinic has now been open for over 10 years, and in that time weve treated a number of people who suffer from klippel feil syndrome. Klippel feil syndrome information page what research is being done. Klippel feil syndrome is a rare disorder characterized by the congenital fusion of two or more cervical neck vertebrae. It occurs in one of every 42,000 births, and 60% of cases are female. The cause of the condition is unknown in individuals with kfs who do not have mutations of these two genes.
Springer nature is making coronavirus research free. Klippelfeil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Fusion at one level of the cervical spine accounted for 26 remaining cases. Radiologically, there is a failure of cervical segmentation. The paindetect questionnaire was specifically developed to detect neuropathic pain components in adult patients with low back pain freynhagen et al. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis.
It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. Klippel feil syndrome dnbid authorstream presentation. Klippel feil syndrome is characterized by failure in segmentation of two or more cervical vertebrae. Malformazione complessa dellorecchio interno a tipo mondini. Deafness is a well known associated feature and may be of sensorineural, conductive. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. To access free multiple choice questions on this topic, click here. Klippel feil syndrome, the triad of limitation of movement of the head, short neck, and low posterior hairline, is often associated with other congenital anomalies. Klippel feil syndrome was first described by maurice klippel and andre feil in 1912 in patient with congenital fusion of cervical vertebrae.
Deafness is the second most common associated abnormality and has been estimated to occur in up to 30% of patients with klippel feil. Klippel feil syndrome is considered to happen in 1 in 40,000 to 42,000 newborns global. Ct and mr imaging of the neck and upper thorax demonstrated a cervical osseous segmentation anomaly, a left common carotid artery originating from the innominate artery, and a left subclavian artery coursing. A revised and updated directory for the internet age at. No matter what the severity, those with klippel feil syndrome should avoid contact sports and other activities where there is a chance of physical trauma or of sustaining impact injuries. Today, wed like to look at this rare disorder in detail read on to find out what klippel feil syndrome is and how our physiotherapists can help those who have it. May 24, 2004 question are there any documented cognitive, speechlanguage disabilities associated with klippel feil syndrome. Klippelfeil syndrome information page national institute. Klippel feil syndrome kfs is defined as a short neck with decreased movement and low posterior hairline. Patients with upper cervical spine involvement tend to present at an earlier age than those whose involvement is lower in the cervical spine. Klippel feil syndrome kfs is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior.
The disorder may be isolated but it can also present in association with numerous other syndromes. Thirty five were found to have abnormalities on audiological. The classical clinical triad of kfs, although found in 50 % or less of patients 4, 15, is comprised of a short neck, low posterior hairline, and limited range of cervical motion. In sprengel deformity, the scapula is bound to the cervical spine by fibrous tissue, cartilage or an omovertebral bone, which restrict abduction of the shoulder. The official parents sourcebook on klippelfeil syndrome. Klippelfeil syndrome dystrophia brevicollis congenita. Klippel feil syndrome kfs is a congenital spinal malformation characterized by the failure in segmentation of two or more cervical vertebrae due to an abnormal division of the mesodermal somites. Research supported by the national institute of neurological disorders and stroke includes studies to understand how the brain and nervous system normally develop and function and how they are affected by disease and trauma. Klippelfeil syndrome kfs is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. Klippelfeil syndrome is a rare skeletal anomaly characterised by abnormal fusion of two or more vertebrae. Joseph, a 46yearold tailor with a history of chronic abdominal pain and recurrent pleural effusions 1.
Please note this website is currently under construction. Introduction in klippel feil syndrome, classically there is a triad of short neck, a low posterior hairline and a limited range of neck movements especially of lateral bending. In fewer than 50% of cases have all the three elements. Klippel and feil 1912 first described the disorder in a 46yearold french man who had a short immobile neck with massive fusion of cervical and upper thoracic vertebrae. Klippel feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Sep, 2016 in 1912 maurice klippel and andre feil described a syndrome that is now called klippelfeil syndrome kfs. The proband was a 24yearold woman with unilateral sensorineural. Klippelfeil syndrome presents with an abnormal fusion of 2 or more bones in. Role of mri in the diagnosis of mills syndrome springerlink. Pdf klippelfeil syndrome is a rare congenital bone malformation characterized by the fusion of two or more cervical vertebrae. Klippelfeil syndrome childrens hospital of philadelphia.
The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features tracy et al. Klippelfeil syndrome and sprengel deformity combined with. Question are there any documented cognitive, speechlanguage disabilities associated with klippel feil syndrome. Lipoma of the spinal cord associated with klippelfeil syndrome in. This syndrome results from failure of the normal segmentation of th. Herman historical background in 1912, klippel and feil published the clinical and anatomic description of l. Pubmed is a searchable database of medical literature and lists journal articles that discuss klippel feil syndrome. The audiological assessment of 44 patients with kfs is reported. Mar 21, 2017 today im diving right into the subject of my illness kfs. Today im diving right into the subject of my illness kfs. It was first described by maurice klippel and andre feil in 1912. Klippel feil syndrome is a rare mixed osseous and visceral developmental anomaly with an estimated incidence of 142,000 births.
Il paziente e stato sottoposto allesame di risonanza magnetica nucleare che. Pdf rheumatoid arthritis, klippelfeil syndrome and potts. Klippel feil syndrome is a complex disorder that consists of congenital fusions of the cervical vertebrae. Klippel feil syndrome john oller jr neurogenics, cognition. Lassociazione tra malformazione di mondini e sindrome di klippelfeil. We present a case of klippel feil syndrome and sprengel deformity with a bovine aortic arch and an aberrant course of the left subclavian artery in a 14yearold boy. Klippelfeil syndrome associated with a craniocervico. For language access assistance, contact the ncats public information officer.
Klippel feil syndrome kfs is a complex disorder that is quite variable in its manifestations, ranging from fusion of one level of the cervical spine detected incidentally on imaging studies to extensive fusion of most of the cervical and upper thoracic spine in patients who are symptomatic. All structured data from the file and property namespaces is available under the creative commons cc0 license. Statistiche sindrome di klippelfeil mappa sindrome di. Klippelfeil syndrome with congenital heart disease jama. A revised and updated directory for the internet age. The syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Aug 04, 2017 klippel feil syndrome, autosomal dominant klippel feil syndrome, autosomal recessive. Klippel feil syndrome kfs is a complex congenital disorder of improper fusion of at least two cervical vertebrae. Bavinck and weaver 1986 hypothesized that poland syndrome, klippel feil anomaly, moebius syndrome, isolated absence of pectoralis major with breast hypoplasia, isolated transverse limb defects, and sprengel anomaly are all the result of interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries andor their branches. Orphanet is a european reference portal for information on rare diseases and orphan drugs. Klippel feil syndrome cannot be resolved with physical therapy. It is caused by a failure in the normal segmentation of the cervical vertebrae during the early weeks of fetal development.
If you have problems viewing pdf files, download the latest version of adobe reader. Lipoma of the spinal cord associated with klippelfeil. Klippeltrenaunay syndrome nord national organization. Case report in the present case we have found congenital scoliosis, sprengel deformity and there were no evidence of renal disease, congenital heart disease and. Klippel feil syndrome is associated with sprengel deformity congenital high scapula, scoliosis, urinary tract anomalies, and congenital heart disease.
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