Klippelfeil syndrome is a rare skeletal disease caused primarily due to the abnormal connection of two or more bones of the spinal column within the neck cervical vertebrae. Three major features result from this vertebral fusion. Klippeltrenaunay syndrome symptoms and causes mayo clinic. A classic triad is often associated with klippelfeil, consisting of cervical fusion, short neck, and a. Type i is a massive fusion of the cervical spine, type 2 is the fusion of 1 or 2 vertebrae, and type 3 includes thoraciclumbar spine deformities. Klippel feil syndrome kfs is a complex congenital disorder of improper fusion of at least two cervical vertebrae. Sep, 2016 in 1912 maurice klippel and andre feil described a syndrome that is now called klippelfeil syndrome kfs. Klippel feil syndrome is the abnormal fusion of two or more spinal bones in the neck. This book does not say anything useful about klippel feil syndrome, it just gives a quick description of it that any parent whose child has klippel feil would know. Patients with klippelfeil syndrome usually present with the disease during childhood, but they sometimes present later in life. In others, surgery may be needed to stabilize the cervical spine or correct a deformity. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Klippelfeil syndrome is a heterogeneously inherited condition that occurs in about 1 in 40,000 newborns. Klippel feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck.
This syndrome can cause chronic headaches as well as pain in both the neck and the back. Patients with klippel feil syndrome usually present with the disease during childhood, but they sometimes present later in life. Klippelfeil syndrome childrens hospital of philadelphia. Apr 30, 2020 klippel feil syndrome kfs is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. A complete history and careful physical examination may reveal some associated anomalies.
Common features may include a short neck, low hairline at the back of the head, and restricted movement of the upper spine. This disorder develops in the early stages of a babys development, usually in the first one to two months. 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. The classic clinical triad of a short neck, low hairline, and restricted neck motion is considered to be present in syndrome. Klippelfeil syndrome and unilateral diaphragmatic paralysis. The hope of living with klippel feil depends on the associated abnormalities specific that may affect the patient and the type of syndrome. There may be other spinal problems such as spina bifida and scoliosis. Klippel feil syndrome is a disorder of the bone that has a characteristic of abnormal fusion of the cervical vertebrae or the spinal bones that is located in the neck region. Klippel feil syndrome genetic and rare diseases information. We are a vibrant, active community, advocating globally to increase awareness, advance research, and improve care for kfs patients of all ages. Maurice klippel and andre feil first to describe syndrome in 1912 characterized by patients with. Superior odontoid migration in the klippelfeil patient. Back in 1912, klippel as well as feil individually made the first portrayals of klippelfeil syndrome. Klippel feil syndrome was first described by maurice klippel and andre feil in 1912 in patient with congenital fusion of cervical vertebrae.
It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The disorder is present at birth congenital, but mild cases may go undiagnosed until later during life when symptoms worsen or first become apparent. The official parents sourcebook on klippelfeil syndrome. This also has made delineation of diagnostic and prognostic classes difficult and has complicated elucidation of the genetic etiology of the syndrome. Klippelfeil syndrome was first described by maurice klippel and andre feil in 1912 in patient with congenital fusion of cervical vertebrae. Klippelfeil syndrome freedom improving the lives of. The main features include a red birthmark portwine stain, overgrowth of tissues and bones, and vein. 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 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 578 it results in a limited ability to move the neck and shortness of the neck resulting in the appearance of a low hairline. Klippelfeil syndrome kfs is a congenital bone condition in which at least 2 vertebrae in the cervical spine remain fused and immobile.
I dont know if you have noticed, but i have the same disability kfs as you have. Klippelfeil 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. Superior odontoid migration som has been noted in various skeletal deformities and entails an upwardvertical migration of the odontoid process into the foramen magnum with depression of the cranium. Klippel feil syndrome kfs is defined as a short neck with decreased movement and low posterior hairline.
It is caused by a failure in the normal segmentation of the cervical vertebrae during the early weeks of fetal development. How often is klippelfeil syndrome associated with congential heart. Klippelfeil syndrome is characterized by congenital fusion of two or more cervical vertebrae. Klippelfeil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. We are an organization working to help you navigate life with kfs, a rare spine disorder. 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. Mar 27, 2019 klippel feil syndrome is a rare disorder characterized by the congenital fusion of two or more cervical neck vertebrae. 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 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. Klippelfeil syndrome nord national organization for rare. The fusion happens in the c2 or cervical vertebrae bone number 2 and c7 or cervical vertebrae bone number 7. Treatment for klippelfeil syndrome depends on the severity of the condition and the other conditions that present. What to know about klippelfeil syndrome spinehealth. The klippelfeil syndrome is a congenital anatomical defect in the neck, which. 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. A classic triad is often associated with klippelfeil, consisting of cervical fusion, short neck, and a low hairline. Klippelfeil syndrome is characterised by congenital failure of normal segmentation of cervical somites at 38 weekss gestation, resulting in two or more fused cervical segments. Klippel feil syndrome kfs is a congenital bone condition in which at least 2 vertebrae in the cervical spine remain fused and immobile. This page is for people who have klippel feil syndrome or know anybody with klippel feil symdrome. 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. Radiologically, there is a failure of cervical segmentation.
Brokinkel b, wiebe k, hesselmann v, filler tj, ewelt c, mullerhofstede c, stummer w, and klingenhofer m. 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. Its so interesting to learn how it affects everyone a bit differently, especially since it is such a complex condition. Klippelfeil syndrome kfs is a complex congenital disorder of improper fusion of at least two cervical vertebrae.
Klippelfeil syndrome an overview sciencedirect topics. Klippel feil syndrome is a rare skeletal disease caused primarily due to the abnormal connection of two or more bones of the spinal column within the neck cervical vertebrae. Klippel feil syndrome is characterized as a short, webbed neck. Klippel feil syndrome is named after the people who first identified the rare bone disorder. The most common signs of the disorder are short neck, low hairline at the back of the. Apr, 2020 klippel feil syndrome is a condition in which several of the vertebrae in the neck are fused together. Abnormalities of other organs, such as the kidney, heart or lungs can also be present. Nov 12, 2019 intriguing history of vertebral fusion anomalies. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Audiological abnormalities in the klippelfeil syndrome. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. Then the book just goes on to give generic, outdated tips about doing online research which could be used for any research topic. Klippelfeil syndrome information page national institute.
Klippel feil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae. Klippel feil syndrome an overview sciencedirect topics. Klippelfeil syndrome nord national organization for. Facts about klippelfeil syndrome a knowledge archive. Today, wed like to look at this rare disorder in detail read on to find out what klippelfeil syndrome is and how our physiotherapists can help those who have it. Of the 21, 12 had no neurologic deficit, and 11 of these 12 had a single block vertebra with no other cervical or. Recent studies indicate that those individuals diagnosed with a mild form of this rare condition have a life expectancy similar to that of the general population. Mindeye helps 14yearold overcome limitations of rare. Klippelfeil syndrome klipel fil, mim148900 a congenital defect manifested as a short neck, fusion of cervical. Klippel feil syndrome kfs is a condition affecting the development of the. Until recently, the research on klippelfeil syndrome regarding how it connects to other health issues hasnt been well understood by doctors. For some cases, selfcare and nonsurgical treatment, like physical therapy and bracing may suffice. Treatment for klippelfeil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord.
Dec 19, 2017 klippeltrenaunay klihpel traynonay syndrome. Klippelfeil syndrome is a condition in which several of the vertebrae in the neck are fused together. Klippelfeil syndrome kfs is defined as a short neck with decreased movement and low posterior hairline. Klippelfeil syndrome is a rare disorder characterized by the congenital fusion of two or more cervical neck vertebrae. Klippelfeil syndrome is a disorder of the bone that has a characteristic of abnormal fusion of the cervical vertebrae or the spinal bones that is located in the neck region. The audiological assessment of 44 patients with kfs is reported. A while ago, klippelfeil syndrome freedom announced the us pain foundation was looking for people who would share about their lives dealing with chronic pain so i submitted my video about living with kfs. What is the life expectancy of someone with klippelfeil.
The challenge to the clinician is to recognize the associated anomalies that can occur with klippelfeil syndrome and to perform the appropriate workup for diagnosis. Klippelfeil syndrome kfs is a congenital skeletal disorder characterized by a defect in cervical spine segmentation leading to various degrees of pathologic vertebral fusion in affected patients. Klippelfeil syndrome forms in utero when genes gdf6 or gdf3 mutate. Klippelfeil syndrome presents with an abnormal fusion of 2 or more bones. Klippel feil syndrome kfs is a condition affecting the development of the bones in the spine. A case report of klippelfeil syndrome with sprengels deformity. Klippelfeil syndrome is a rare skeletal anomaly characterised by abnormal fusion of two or more vertebrae. Treatment for klippel feil syndrome depends on the severity of the condition and the other conditions that present. Klippel feil syndrome affects around 1 in 2500 people. Klippelfeil syndrome is a congenital fusion of the cervical vertebra that may involve two segments, a congenital block vertebra, or entire cervical spine 6. This book does not say anything useful about klippelfeil syndrome, it just gives a quick description of it that any parent whose child has klippelfeil would know.
The disorder may be isolated but it can also present in association with numerous other syndromes. People with kfs are born with abnormal fusion of at least two spinal bones vertebrae in the neck. Furthermore, it is unclear whether klippelfeil syndrome is a discrete entity, or if it is one point on a spectrum of. 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. The crossed flexor plantar response in patients with klippelfeil. Klippelfeil 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. 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. Please note this website is currently under construction. They both described a patient with a webbed, short neck. The challenge to the clinician is to recognize the associated anomalies that can occur with klippel feil syndrome and to perform the appropriate workup for diagnosis. Klippel feil syndrome kfs is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance.
See more ideas about severe neck pain, sternocleidomastoid muscle and vanishing twin syndrome. Furthermore, it is unclear whether klippel feil syndrome is a discrete entity, or if it is one point on a spectrum of. This disorder develops in the early stages of a babys development, usually in. Klippelfeil syndrome definition of klippelfeil syndrome. Klippelfeil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae. Klippelfeil syndrome kfs, also known as cervical vertebral fusion syndrome, is a rare. The proband was a 24yearold woman with unilateral sensorineural. Since its first description in 1912, a wide range of skeletal and extraskeletal. How to find friends with the same rare disease the mighty.
Klippel feil syndrome wheeless textbook of orthopaedics. Klippelfeil syndrome is a rare congenital anomaly of the cervical spine 1 in 42,000 births typically. Klippel feil syndrome kfs is an uncommon condition noted primarily as congenital fusion of two or more cervical vertebrae. Surgical treatment in a patient with klippelfeil syndrome and anterior cervical meningomyelocele. Depending on how many vertebrae remain fused andor the location of the congenital fusions, neck pain symptoms can vary from mild to severe with the possibility of many other associated abnormalities in other areas of the body. In fewer than 50% of cases have all the three elements. Klippelfeil syndrome is a rare skeletal disorder primarily. Facial asymmetry and short, webbed neck in a 17yearold girl with klippelfeil syndrome. Despite her medical history, luca is definitely a memorable person in my book. Klippelfeil syndrome pictures, symptoms, treatment, causes. 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.
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