Introdução
O que você precisa saber de cara
Isto é uma lista de códigos de doenças no banco de dados Online Mendelian Inheritance in Man (OMIM). São doenças que podem ser herdadas por um mecanismo genético Mendeliano. O OMIM é um dos bancos de dados abrigados no Centro Nacional de Informações sobre Biotecnologia dos EUA.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth
CytoplasmNucleusCytoplasm, myofibril, sarcomere
Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies.
Variantes genéticas (ClinVar)
214 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 159 variantes classificadas pelo ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial
Centros para Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Publicações mais relevantes
Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.
Congenital vertebral malformations (CVMs), affecting approximately 0.5-1 per 1000 live births, occur either in an isolated form or as part of syndromic disorders. Despite the identification of numerous causative genes for CVMs, the molecular etiology of most cases remains unknown. In this study, we applied a three-tiered diagnostic approach (chromosomal microarray analysis, followed by custom gene panel analysis, and exome/genome sequencing) in a cohort of 34 patients with CVMs. We achieved a 12% diagnostic success rate, identifying a deletion upstream of SOX9 and pathogenic or likely pathogenic variants in FLNB and KMT2D. Most pathogenic variants were detected by exome or genome sequencing, while earlier-tier analyses yielded limited results. We also identified two candidate genes, NSD2 and TBXT, that may contribute to the phenotype observed in our patients, but warrant future functional validation. Our work expands the molecular spectrum of CVMs and highlights the utility of comprehensive genomic testing for improving diagnosis and understanding of vertebral development disorders.
Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.
Klippel-Feil syndrome (KFS) is a rare congenital disorder characterised by the fusion of the cervical vertebrae. We report the case of an early adolescent patient who presented with acute dizziness, vomiting, slurred speech and left-sided hemiparesis following neck movements. Imaging revealed craniocervical anomalies (including atlanto-occipital assimilation and C2-C3 fusion) and severe vertebrobasilar artery stenosis/occlusion, which led to acute ischaemic infarcts in the cerebellum and pons. Notably, the patient lacked the classical short-neck phenotype. The patient was diagnosed with KFS and a posterior circulation stroke. The patient showed significant improvement with antiplatelet therapy, anticoagulation and rehabilitation. This case underscores the fact that KFS can present with life-threatening stroke even in the absence of typical clinical features, highlighting the importance of early imaging and a multidisciplinary approach.
Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
Temporomandibular joint (TMJ) ankylosis impairs jaw function, limiting mouth opening, speech, and mastication, and rendering airway access high-risk. In patients with syndromic conditions such as Pierre Robin Sequence (PRS) and Klippel-Feil Syndrome (KFS), ankylosis presents additional challenges due to airway compromise, restricted mandibular growth, and complex skeletal abnormalities. In addition, predicting the ability to advance the mandible using a prosthesis may be challenging due to anatomic factors. We report the case of an 18-year-old female with TMJ ankylosis, PRS, and KFS, presenting with severe trismus, retrognathia, and failed prior distraction osteogenesis. Imaging confirmed bilateral bony TMJ ankylosis and high-risk airway anatomy due to cervical spine fusion to the skull base. The patient underwent a staged surgical reconstruction involving ankylosis release and delayed alloplastic joint replacement with mandibular advancement. A later revision using new patient-fitted condylar components retained the fossa components and advanced the mandible an additional amount. The prosthetic outcome for mandibular advancement remains excellent six years after final reconstruction. There is no evidence of wound dehiscence, prosthesis loosening, or failure, and overall function remains significantly improved. This case highlights the complexities of TMJ ankylosis in a patient with multiple craniofacial syndromes and demonstrates the importance of individualized, multidisciplinary planning and the utility of prosthetic TMJ reconstruction. Revision using a new condylar component to further advance the mandible is a potential means of treatment while maintaining the fossa component to minimize variables at the time of surgery.
Pathologies of the cervical spine in skeletal syndromes and dysplasias.
Skeletal syndromes and dysplasias include more than 150 entities, most often of genetic origin. Some of them cause abnormalities in the cervical spine, with or without instability, distortion or compression of the spinal cord. These abnormalities must be detected and treated if necessary because they can have serious consequences such as quadriplegia. Up to 30% of patients with Down syndrome are affected by occipitocervical or atlantoaxial instability. Dynamic cervical spine radiographs are the most common screening tool. Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases that result in the accumulation of glycosaminoglycans sometimes responsible for craniocervical instability and cervical spinal canal stenosis. Their monitoring requires an MRI every two years. Neurofibromatosis type 1 and syndromes with connective tissue abnormalities (Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome) can cause severe and unstable cervical spine deformities that may remain asymptomatic for a long time. Cervical X-rays should therefore be performed if there is the slightest doubt. Some rare chondrodysplasias (punctate chondrodysplasia, Larsen syndrome, Metatropic dysplasia) or segmentation anomalies (Klippel Feil syndrome, Sprengel's disease) have cervical spine abnormalities that should be looked for. In case of progression of a deformity (usually kyphosis) or stenosis of the cervical spine, it is important to consider surgical treatment with correction and stabilization. Sometimes preceded by a period of Halo traction, the instrumentation must have "wide" limits and exceed the anatomical limits of the spinal deformity by at least 2-3 levels to prevent the development of an adjacent deformity. The increasing use of surgical navigation techniques allows for greater corrections and more efficient stabilizations, including severe cervical spinal deformities. Vigilance and the detection of these abnormalities remain the key to early and preventive treatment of the complications of these spinal anomalies on often difficult terrain. LEVEL OF EVIDENCE: >V (expert opinion).
Successful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.
A rare case of Klippel-Feil syndrome associated with anterior cervical meningomyelocele is reported, treated successfully using partial cervical corpectomy, spinal cord microsurgical reinsertion into the spinal canal, and vertebral reconstruction. A 71-year-old patient presented with upper limb paraesthesia, chronic neck pain, and progressive motor distal impairment. Cervical spine imaging revealed an anterior cervical meningomyelocele digging into C7 vertebra and underlying adjacent congenital fusion blocks. An anterior cervical decompression combined with fusion led to excellent recovery in this patient and could be of potential interest for surgical management of spinal malformation combined with embryological neural structure abnormality. The current literature is reviewed, along with the different modes of surgical treatment available for this unusual clinical entity.
Publicações recentes
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Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
📚 EuropePMCmostrando 195
Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.
International journal of molecular sciencesRevision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
Oral and maxillofacial surgeryKlippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.
BMJ case reportsA Fatal Case of a Ruptured Posterior Communicating Artery Aneurysm in a Patient With Suspected Klippel-Feil Syndrome.
CureusPosterior fossa decompression in syndromic children with chiari-like posterior fossa crowding: a nationwide US-based study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPathologies of the cervical spine in skeletal syndromes and dysplasias.
Orthopaedics & traumatology, surgery & research : OTSRNeurological and neuropsychological correlates of Klippel-Feil syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyKlippel-Feil syndrome revealed by post-traumatic neck pain: Case report and literature review.
Radiology case reportsMultisystemic presentation of Klippel-Feil syndrome with dextrocardia and right lung hypoplasia.
BMJ case reportsCervical Disk Arthroplasty Failure in a Patient with Klippel-Feil Syndrome: A Case Report.
JBJS case connectorReturn-to-Sport Recommendations for Athletes With Congenital Cervical Spine Pathology: A Modified Delphi Consensus Survey of Expert Opinion.
NeurosurgeryRadiographic and clinical findings associated with Klippel-Feil Syndrome: a case series.
Spine deformityShort neck as a cause of stroke? Bilateral vertebral artery dissection in a patient with Klippel-Feil Syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology[Surgical outcomes and prognostic analysis of congenital cervicothoracic scoliosis with Klippel-Feil syndrome].
Zhonghua wai ke za zhi [Chinese journal of surgery]Radiological features and internal fixation strategies of atlantoaxial dislocation combined with atlas occipitalization.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyComparing intubation techniques of Klippel-Feil syndrome patients in the last 10 years: a systematic review.
Journal of osteopathic medicineTherapeutic rehabilitation for Klippel-Feil syndrome: a case report.
JPMA. The Journal of the Pakistan Medical AssociationCombined Klippel-Feil syndrome, Sprengel deformity, and diffuse large B-cell lymphoma: A rare case report.
Radiology case reportsOtolaryngological Presentations of Klippel-Feil Syndrome: A Systematic Review.
CureusCardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review.
CureusSuccessful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.
British journal of neurosurgeryMost common congenital syndromes with facial asymmetry: A narrative review.
Dental and medical problemsA novel classification of congenital cervicothoracic scoliosis: identification of coronal subtypes and their prognostic significance.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyCardiopulmonary Complications of Klippel-Feil Syndrome: A Case Report.
CureusTreatment of Klippel-Feil syndrome with symptomatic atlantoaxial instability in a 7-year-old boy : A case report.
Orthopadie (Heidelberg, Germany)3D computed tomography diagnosis of Klippel-Feil syndrome and Sprengel's deformity with omovertebral bone.
Pediatrics and neonatologySpinal neurenteric cysts: experience with 9 cases via an anterior cervical approach.
Journal of neurosurgery. SpineA Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome.
Archives of Razi InstitutePosterior Occipitocervical Fixation and Intrathecal Baclofen Therapy for the Treatment of Basilar Invagination with Klippel-Feil Syndrome: A Case Report.
Medicina (Kaunas, Lithuania)Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies.
CureusThe Assessment of Airway Compression Due to Cervical Fusion in Klippel-Feil Syndrome Patients: A Report of Two Cases.
The Kurume medical journalDuplication of right vertebral artery in Klippel-Feil anomaly.
BMJ case reportsNeglected Sprengel's deformity in an 80-year-old female cadaver: a case report.
Journal of medical case reportsKlippel-Feil syndrome: Should additional examination be conducted?
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyA Novel Technique for Basilar Invagination Treatment in a Patient with Klippel-Feil Syndrome: A Clinical Example and Brief Literature Review.
Medicina (Kaunas, Lithuania)Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity.
Texas Heart Institute journalSpinal Neurenteric Cyst of the Ventral Cervicothoracic Junction With Klippel-Feil Syndrome as a Symptom of Progressive Myelopathy: A Case Report.
Korean journal of neurotraumaGenetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.
Orphanet journal of rare diseasesWhole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion.
Human mutationTransient binocular vision loss and pain insensitivity in Klippel-Feil syndrome: a case report.
Journal of medical case reportsPUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.
American journal of medical genetics. Part AMolecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Orphanet journal of rare diseasesKlippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.
JNMA; journal of the Nepal Medical AssociationCervical split cord malformation (diastematomyelia) with associated Klippel-Feil deformity presenting in adulthood with bimanual synkinesis.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society[The multisystem deformities features of Klippel-Feil syndrome patients combined with congenital scoliosis].
Zhonghua yi xue za zhiTetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.
Journal of medical case reportsOs odontoideum: database analysis of 260 patients regarding etiology, associated abnormalities, and literature review.
Frontiers in surgeryFailure of Mandibular Distraction Osteogenesis in Klippel- Feil Syndrome- 4: A Case Report of a Rare Syndromic Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Consultation for Pediatric Neck Mass Resulting in a Rare Diagnosis of Klippel-Feil Syndrome: A Case Report.
Cureus[Analysis of a child with Verheij syndrome due to variant of PUF60 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsKlippel-Feil Syndrome and Complete Uterine Agenesis.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCChiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryBrown Sequard syndrome in a patient with Klippel-Feil syndrome following minor trauma: a case report and literature review.
BMC musculoskeletal disordersA case of Klippel-Feil syndrome concurrent with basilar invagination, cervical disc herniation and ossification of the posterior longitudinal ligament.
Asian journal of surgeryEvolving Concepts of Craniovertebral and Spinal Instability.
Advances and technical standards in neurosurgeryTransmandibular Cervical Corpectomy for Persistent Spinal Cord Compression in a Patient With Klippel-Feil Syndrome: A Technical Note and Systematic Review.
Operative neurosurgery (Hagerstown, Md.)Multiple Hemivertebrae: The Natural History and Treatment of 50 Patients.
Orthopaedic surgeryCervicothoracic dislocation due to congenital and bone-dysplasia-related vertebral malformations.
Spine deformityIntrathoracic bifurcation of the left common carotid artery associated with Klippel-Feil syndrome and Moyamoya disease.
The American journal of the medical sciencesKlippel-Fiel syndrome with rare presentation of bilateral temporomandibular joint osteoarthritis - A case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryThink About Klippel-Feil as Causing Neurogenic Thoracic Outlet Syndrome!
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryWildervanck syndrome: clinical case report.
Archivos argentinos de pediatriaApplication of C2 subfacetal screws for the management of atlantoaxial dislocation in patients with Klippel-Feil syndrome characterized by a narrow C2 pedicle and high-riding vertebral artery.
Journal of orthopaedic surgery and researchSurgical Management Of Irreducible Atlanto-Axial Dislocation With OS Odontoideum And Klippel-Feil Syndrome.
Journal of Ayub Medical College, Abbottabad : JAMCA case of nonrheumatoid retro-odontoid pseudotumor in Klippel-Feil syndrome with C1 occipitalization.
Surgical neurology internationalCongenital Cervical Spinal Deformities.
Orthopaedics & traumatology, surgery & research : OTSR[Research on effectiveness of occipito-odontoid angle in predicting dysphagia after occipitocervical fusion in patients with C 2, 3 Klippel-Feil syndrome].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryA case of ischemic stroke accompanied by multiple arterial dissections associated with Klippel-Feil syndrome.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationKlippel-Feil Syndrome: Clinical Presentation and Management.
JBJS reviewsThe predictive ability of occipital to C3 angle for dysphagia after occipitocervical fusion in patients with combined C2-3 Klippel-Feil syndrome.
BMC musculoskeletal disordersOutcomes of medial patellofemoral ligament reconstruction and tibial tubercle osteotomy in syndromic adolescents with patellar dislocation.
Journal of clinical orthopaedics and traumaCervical myelopathy in a patient with Klippel-Feil syndrome treated with a patient-specific custom cervical spine locking plate.
Spinal cord series and casesPediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.
GenesCervical disc arthroplasty for Klippel-Feil syndrome.
Clinical neurology and neurosurgeryKlippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
The Journal of the American Academy of Orthopaedic SurgeonsDetailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.
American journal of medical genetics. Part AVertebral Artery Dissection in a Case of Klippel-Feil Syndrome.
NeuropediatricsTime-efficient shared decision-making for airway management of a patient with intellectual disability and anticipated difficult airway: A case report.
Journal of clinical anesthesiaThe Inescapable Conundrum of Klippel-Feil Syndrome Airway: Case Reports.
AANA journalRole of Atlas Assimilation in the Context of Craniocervical Junction Anomalies.
World neurosurgeryThe VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.
Molecular genetics & genomic medicineKlippel-Feil-Like syndrome with urogenital and complex cervical vertebral malformations in a dog.
The Journal of small animal practiceRare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background.
BMJ case reportsKlippel-Feil syndrome cases from Slovakia.
International journal of paleopathologyA rare case of difficult airway management in a Klippel-Feil syndrome pediatric patient with osseous torticollis undergone orthopedic surgery : Difficult airway in pediatric patient with torticollis.
BMC anesthesiologyPrenatal diagnosis of Sprengel's deformity in a patient with Klippel-Feil Syndrome.
Clinical imagingRare cause of paraparesis in a young man: cervico-dorsal neurenteric cysts associated with Klippel-Feil syndrome.
BMJ case reports[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeLetter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).
European journal of medical geneticsCervical myelopathy secondary to omovertebral bone in the pediatric patient with Sprengel deformity.
Neurosciences (Riyadh, Saudi Arabia)Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.
American journal of medical genetics. Part ACongenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Clinical geneticsHeterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Human molecular geneticsSprengel Deformity with Omovertebral Bone Encroaching the Spinal Canal Causing Progressive Cervical Myelopathy: A Technical Case Report.
World neurosurgeryFurther delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
American journal of medical genetics. Part AGDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.
Cell reportsIntervertebral Disc Calcification and Klippel-Feil Syndrome.
Journal of radiology case reportsCervical myelopathy in a child with Sprengel shoulder and Klippel-Feil syndrome.
Spine deformityCongenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome.
World neurosurgeryCentral sleep apnea and Chiari 1 malformation in a pediatric patient with Klippel-Feil syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineSurgical Treatment for Central Sleep Apnea due to Occipitocervical Compression Myelopathy in a Patient with Klippel-Feil Syndrome.
World neurosurgerySimultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.
Plastic and reconstructive surgeryAlgorithm for management of sudden unexpected extubation in patient positioned in prone position.
Anaesthesiology intensive therapySprengel Deformity: Comprehensive Evaluation of Concomitant Spinal and Extraspinal Anomalies in 90 Patients.
SpineCervical Abnormalities in Severe Spinal Deformity: A 10-year MRI Review.
Orthopaedic surgeryKlippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature.
World neurosurgeryThe mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
BMC musculoskeletal disordersCongenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
American journal of medical genetics. Part AA novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.
GeneMedullary Infarction Leading to Locked-In Syndrome Following Lumbar Puncture in a Patient with Basilar Invagination.
World neurosurgeryBilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome.
World neurosurgeryKlippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.
SpineAnswer to the Letter to the Editor of B. Hu et al. concerning "Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry" by Nouri et al. [Eur Spine J; (2019) 28(10): 2257-2265].
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyKlippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends.
Journal of craniovertebral junction & spineKingVision® and dexmedetomidine for opioid-free awake intubation in a patient with Klippel-Feil syndrome for complex percutaneous nephrolithotomy in a prone position: a case report.
Anaesthesiology intensive therapyKlippel-Feil syndrome: a review of the literature.
Clinical dysmorphologyProximal Adjacent Segment Disease Manifesting as Retroodontoid Pseudotumor After Fusion to C2.
World neurosurgeryKlippel-Feil Syndrome with Sprengel Deformity.
Journal of radiology case reportsImaging of Thoracic Wall Abnormalities.
Korean journal of radiologyIntrathoracic bifurcation of the left common carotid artery associated with rib fusion and Klippel-Feil syndrome.
Surgical and radiologic anatomy : SRAIncidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.
Journal of pediatric orthopedicsDemographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyDevelopmental anomalies and South American paleopathology: A comparison of block vertebrae and co-occurring axial anomalies among three skeletal samples from the El Brujo archaeological complex of northern coastal Peru.
International journal of paleopathologyEndoscopic Endonasal Approach for Urgent Decompression of Craniovertebral Junction in Syringobulbia.
World neurosurgeryKlippel-Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging.
Echocardiography (Mount Kisco, N.Y.)Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.
Rheumatology internationalExpanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.
European journal of medical genetics[Teenagers with torticollis].
Nederlands tijdschrift voor geneeskundeBasilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Klippel-Feil autosomal dominant syndrome: A malformation of vertebral segmentation].
Revista chilena de pediatriaKlippel-Feil syndrom: a duplicated thumb.
The Pan African medical journalKlippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.
American journal of medical genetics. Part ARare Hereditary Klippel-Feil Syndrome and Arnold-Chiari Malformation Caused by Cervical Spondylotic Myelopathy.
World neurosurgeryImaging Findings in Syndromes with Temporal Bone Abnormalities.
Neuroimaging clinics of North AmericaWasp waist sign: Congenital vertebral fusion.
Journal of medical imaging and radiation oncologySkeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome.
Journal of anatomyThe Course of the V2 Segment of the Vertebral Arteries in Klippel-Feil Syndrome: A Case Report.
CureusSpinal anesthesia with a low dosage of local anesthetic for urgent cesarean delivery in a parturient with Klippel-Feil syndrome.
Journal of clinical anesthesiaKlippel-Feil Syndrome With Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report.
SpineDexmedetomidine in difficult airway management with a fibre-optic bronchoscope in the awake patient with Klippel-Feil Syndrome.
Revista espanola de anestesiologia y reanimacionThe Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.
Spine deformityConcomitant Temporomandibular Joint Ankylosis and Maxillomandibular Fusion in a Child with Klippel- Feil Syndrome: A Case Report.
The Journal of clinical pediatric dentistry"Sandwich Deformity" in Klippel-Feil syndrome: A "Full-Spectrum" presentation of associated craniovertebral junction abnormalities.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaAnesthetic Management for Twice in a Child with Klippel-Feil Syndrome.
Masui. The Japanese journal of anesthesiologyThe 6th Rare Disease South Eastern Europe (See) Meeting, Skopje, Macedonia (November 11th, 2017).
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)Anomaly-Related Pathologic Atlantoaxial Displacement in Pediatric Patients.
World neurosurgeryFusion of cervical vertebrae from a basal archosauromorph from the Middle Triassic Denwa Formation, Satpura Gondwana Basin, India.
International journal of paleopathologyKlippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review.
Case reports in orthopedicsOtolaryngologic Manifestations of Klippel-Feil Syndrome in Children.
JAMA otolaryngology-- head & neck surgeryAn Unusual Infection in a Child with Congenital Heart Disease - Trichosporon asahii Infection with Rapid Diagnosis by 18s Ribonucleic Acid (RNA).
Annals of the Academy of Medicine, SingaporeCervical Deformity and Potential Difficult Airway Management in Klippel-Feil Syndrome.
AnesthesiologyLateral medullary infarction with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and Klippel-Feil syndrome: A case report.
MedicineA Case of Intrathoracic Carotid Bifurcation Without Klippel-Feil Syndrome.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association[Anesthesia in a newborn with Klippel-Feil syndrome].
Revista brasileira de anestesiologiaUnicornuate Uterus in Klippel-Feil Syndrome.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC[Sedation with dexmedetomidine on Klippel Feil Syndrome infant patient].
Revista brasileira de anestesiologiaDeep Sedation Technique for Dental Rehabilitation of a Patient with Klippel-Feil Syndrome.
Journal of dentistry for children (Chicago, Ill.)Misdiagnosed syrinx in a patient with neuroschisis and Klippel-Feil syndrome: case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Analysis of clinical diagnosis and treatment in patients with microtia in Klippel-Feil syndrome].
Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgeryCongenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.
World neurosurgery[Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma.].
Archivos argentinos de pediatriaAn MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.
Molecular genetics and metabolismDisordered vertebral and rib morphology in pudgy mice. Structural relationships to human scoliosis.
Advances in anatomy, embryology, and cell biologyAirway management in newborn with Klippel-Feil syndrome.
Brazilian journal of anesthesiology (Elsevier)Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPSurgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 Lateral Mass and C2 Fixation and Reduction Technique.
World neurosurgeryThe intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome.
Korean journal of radiologyMonsters and the case of L. Joseph: André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine.
Neurosurgical focusCrisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome.
A & A case reportsKlippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication.
Journal of plastic, reconstructive & aesthetic surgery : JPRAS[A Patient with Klippel-Feil Syndrome Having Difficulties in Inserting and Placing an Endotracheal Tube under General Anesthesia].
Masui. The Japanese journal of anesthesiologyRisk factor analysis and decision-making of surgical strategy for V3 segment anomaly: significance of preoperative CT angiography for posterior C1 instrumentation.
The spine journal : official journal of the North American Spine SocietyTreatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate.
NeurosurgeryArterial thoracic outlet syndrome in Klippel-Feil syndrome.
ANZ journal of surgery[RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryKlippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging.
Clinical nuclear medicineAssociation of Craniovertebral Junction Anomalies, Klippel-Feil Syndrome, Ruptured Dermoid Cyst and Mirror Movement in One Patient: A Unique Case and Literature Review.
Turkish neurosurgeryMalignant teratoma in Klippel-Feil syndrome: a case report and review of the literature.
Journal of medical case reportsCongenital odontoid process separation with atlantoaxial dislocation associated with Klipple-Feil syndrome and cervical angular kyphosis secondary to C6 wedging vertebra.
The spine journal : official journal of the North American Spine SocietyThe success of direct laryngoscopy in children with Klippel-Feil Syndrome.
Minerva anestesiologicaRare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
American journal of medical genetics. Part ATypical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.
Journal of pediatric and adolescent gynecologyCase images: A case of Klippel-Feil syndrome with congenital cardiovascular anomalies.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirAirway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section.
International journal of obstetric anesthesiaSevere scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)Type II Klippel-Feil syndrome with accompanying rare costa deformity: rib fusion.
The spine journal : official journal of the North American Spine SocietyCervical vertebral fusion with anterior meningocele.
The neuroradiology journal[Klippel-Feil syndrome with thenar hypoplasia:a case report and literature review].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyCongenital cranial dysinnervation disorder in a boy with congenital mirror movements.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusChiari I malformation with and without basilar invagination: a comparative study.
Neurosurgical focusSpinal Neurenteric Cyst in Association with Klippel-Feil Syndrome: Case Report and Literature Review.
World neurosurgeryA novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
Journal of medical geneticsIntraoperative electrophysiological monitoring during posterior craniocervical distraction and realignment for congenital craniocervical anomaly.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.
- Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.
- Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
- Pathologies of the cervical spine in skeletal syndromes and dysplasias.
- Successful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:447974(Orphanet)
- OMIM OMIM:616549(OMIM)
- MONDO:0014689(MONDO)
- GARD:17778(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55784933(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar