Raras
Buscar doenças, sintomas, genes...
Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial
ORPHA:447974CID-10 · Q76.1OMIM 616549DOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PR, PA, PE, BA, CE +10CID-10: Q76.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

😀
Face
7 sintomas
🦴
Ossos e articulações
4 sintomas
🧠
Neurológico
2 sintomas
💪
Músculos
2 sintomas
❤️
Coração
1 sintomas
🧬
Pele e cabelo
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

100%prev.
Nariz bulboso
Frequência: 2/2
100%prev.
Linha de implantação posterior do cabelo baixa
Frequência: 2/2
100%prev.
Pescoço alado
Frequência: 2/2
100%prev.
Microcefalia
Frequência: 2/2
100%prev.
Ptose
Frequência: 2/2
100%prev.
Fusão vertebral C2/C3 cervical
Frequência: 2/2
25sintomas
Muito frequente (6)
Frequente (11)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.

Nariz bulbosoBulbous nose
Frequência: 2/2100%
Linha de implantação posterior do cabelo baixaLow posterior hairline
Frequência: 2/2100%
Pescoço aladoWebbed neck
Frequência: 2/2100%
MicrocefaliaMicrocephaly
Frequência: 2/2100%
PtosePtosis
Frequência: 2/2100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202427 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

MYO18BUnconventional myosin-XVIIIbDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, myofibril, sarcomere

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Músculo esquelético
112.8 TPM
Coração - Ventrículo esquerdo
31.6 TPM
Coração - Átrio
30.1 TPM
Aorta
16.5 TPM
Testículo
13.7 TPM
OUTRAS DOENÇAS (1)
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
HGNC:18150UniProt:Q8IUG5

Variantes genéticas (ClinVar)

214 variantes patogênicas registradas no ClinVar.

🧬 MYO18B: NM_032608.7(MYO18B):c.5884C>T (p.Arg1962Ter) ()
🧬 MYO18B: NM_032608.7(MYO18B):c.4435-1G>A ()
🧬 MYO18B: NM_032608.7(MYO18B):c.994C>T (p.Gln332Ter) ()
🧬 MYO18B: NM_032608.7(MYO18B):c.4438A>T (p.Lys1480Ter) ()
🧬 MYO18B: NM_032608.7(MYO18B):c.2554del (p.Ala852fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 159 variantes classificadas pelo ClinVar.

32
127
Patogênica (20.1%)
VUS (79.9%)
VARIANTES MAIS SIGNIFICATIVAS
MYO18B: NM_032608.7(MYO18B):c.5884C>T (p.Arg1962Ter) [Likely pathogenic]
MYO18B: NM_032608.7(MYO18B):c.4588G>T (p.Glu1530Ter) [Likely pathogenic]
MYO18B: NM_032608.7(MYO18B):c.1402C>T (p.Gln468Ter) [Likely pathogenic]
MYO18B: NM_032608.7(MYO18B):c.7015del (p.Leu2339fs) [Pathogenic]
MYO18B: NM_032608.7(MYO18B):c.6333-1G>A [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

International journal of molecular sciences2026 Feb 11

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.

#2

Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.

BMJ case reports2026 Jan 27

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.

#3

Revision 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 surgery2026 Feb 17

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.

#4

Pathologies of the cervical spine in skeletal syndromes and dysplasias.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR2026 Feb

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).

#5

Successful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.

British journal of neurosurgery2026 Feb

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

Ver todas no PubMed

📚 EuropePMCmostrando 195

2026

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

International journal of molecular sciences
2026

Revision 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 surgery
2026

Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.

BMJ case reports
2025

A Fatal Case of a Ruptured Posterior Communicating Artery Aneurysm in a Patient With Suspected Klippel-Feil Syndrome.

Cureus
2025

Posterior 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 Neurosurgery
2026

Pathologies of the cervical spine in skeletal syndromes and dysplasias.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2025

Neurological and neuropsychological correlates of Klippel-Feil syndrome.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Klippel-Feil syndrome revealed by post-traumatic neck pain: Case report and literature review.

Radiology case reports
2025

Multisystemic presentation of Klippel-Feil syndrome with dextrocardia and right lung hypoplasia.

BMJ case reports
2025

Cervical Disk Arthroplasty Failure in a Patient with Klippel-Feil Syndrome: A Case Report.

JBJS case connector
2025

Return-to-Sport Recommendations for Athletes With Congenital Cervical Spine Pathology: A Modified Delphi Consensus Survey of Expert Opinion.

Neurosurgery
2025

Radiographic and clinical findings associated with Klippel-Feil Syndrome: a case series.

Spine deformity
2025

Short 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
2025

[Surgical outcomes and prognostic analysis of congenital cervicothoracic scoliosis with Klippel-Feil syndrome].

Zhonghua wai ke za zhi [Chinese journal of surgery]
2025

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 Society
2025

Comparing intubation techniques of Klippel-Feil syndrome patients in the last 10 years: a systematic review.

Journal of osteopathic medicine
2025

Therapeutic rehabilitation for Klippel-Feil syndrome: a case report.

JPMA. The Journal of the Pakistan Medical Association
2025

Combined Klippel-Feil syndrome, Sprengel deformity, and diffuse large B-cell lymphoma: A rare case report.

Radiology case reports
2024

Otolaryngological Presentations of Klippel-Feil Syndrome: A Systematic Review.

Cureus
2024

Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review.

Cureus
2026

Successful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.

British journal of neurosurgery
2024

Most common congenital syndromes with facial asymmetry: A narrative review.

Dental and medical problems
2024

A 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 Society
2024

Cardiopulmonary Complications of Klippel-Feil Syndrome: A Case Report.

Cureus
2024

Treatment of Klippel-Feil syndrome with symptomatic atlantoaxial instability in a 7-year-old boy : A case report.

Orthopadie (Heidelberg, Germany)
2024

3D computed tomography diagnosis of Klippel-Feil syndrome and Sprengel's deformity with omovertebral bone.

Pediatrics and neonatology
2024

Spinal neurenteric cysts: experience with 9 cases via an anterior cervical approach.

Journal of neurosurgery. Spine
2023

A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome.

Archives of Razi Institute
2024

Posterior Occipitocervical Fixation and Intrathecal Baclofen Therapy for the Treatment of Basilar Invagination with Klippel-Feil Syndrome: A Case Report.

Medicina (Kaunas, Lithuania)
2024

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies.

Cureus
2024

The Assessment of Airway Compression Due to Cervical Fusion in Klippel-Feil Syndrome Patients: A Report of Two Cases.

The Kurume medical journal
2024

Duplication of right vertebral artery in Klippel-Feil anomaly.

BMJ case reports
2024

Neglected Sprengel's deformity in an 80-year-old female cadaver: a case report.

Journal of medical case reports
2024

Klippel-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 Society
2024

A Novel Technique for Basilar Invagination Treatment in a Patient with Klippel-Feil Syndrome: A Clinical Example and Brief Literature Review.

Medicina (Kaunas, Lithuania)
2024

Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity.

Texas Heart Institute journal
2024

Spinal Neurenteric Cyst of the Ventral Cervicothoracic Junction With Klippel-Feil Syndrome as a Symptom of Progressive Myelopathy: A Case Report.

Korean journal of neurotrauma
2024

Genetic 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 diseases
2024

Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion.

Human mutation
2024

Transient binocular vision loss and pain insensitivity in Klippel-Feil syndrome: a case report.

Journal of medical case reports
2024

PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.

American journal of medical genetics. Part A
2024

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.

Orphanet journal of rare diseases
2023

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.

JNMA; journal of the Nepal Medical Association
2024

Cervical 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
2024

[The multisystem deformities features of Klippel-Feil syndrome patients combined with congenital scoliosis].

Zhonghua yi xue za zhi
2023

Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.

Journal of medical case reports
2023

Os odontoideum: database analysis of 260 patients regarding etiology, associated abnormalities, and literature review.

Frontiers in surgery
2025

Failure 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 Association
2023

A Consultation for Pediatric Neck Mass Resulting in a Rare Diagnosis of Klippel-Feil Syndrome: A Case Report.

Cureus
2023

[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 genetics
2024

Klippel-Feil Syndrome and Complete Uterine Agenesis.

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
2024

Chiari 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 Neurosurgery
2023

Brown Sequard syndrome in a patient with Klippel-Feil syndrome following minor trauma: a case report and literature review.

BMC musculoskeletal disorders
2023

A case of Klippel-Feil syndrome concurrent with basilar invagination, cervical disc herniation and ossification of the posterior longitudinal ligament.

Asian journal of surgery
2023

Evolving Concepts of Craniovertebral and Spinal Instability.

Advances and technical standards in neurosurgery
2023

Transmandibular Cervical Corpectomy for Persistent Spinal Cord Compression in a Patient With Klippel-Feil Syndrome: A Technical Note and Systematic Review.

Operative neurosurgery (Hagerstown, Md.)
2023

Multiple Hemivertebrae: The Natural History and Treatment of 50 Patients.

Orthopaedic surgery
2023

Cervicothoracic dislocation due to congenital and bone-dysplasia-related vertebral malformations.

Spine deformity
2023

Intrathoracic bifurcation of the left common carotid artery associated with Klippel-Feil syndrome and Moyamoya disease.

The American journal of the medical sciences
2024

Klippel-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 Dentistry
2023

Think 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 Surgery
2023

Wildervanck syndrome: clinical case report.

Archivos argentinos de pediatria
2022

Application 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 research
2022

Surgical Management Of Irreducible Atlanto-Axial Dislocation With OS Odontoideum And Klippel-Feil Syndrome.

Journal of Ayub Medical College, Abbottabad : JAMC
2022

A case of nonrheumatoid retro-odontoid pseudotumor in Klippel-Feil syndrome with C1 occipitalization.

Surgical neurology international
2023

Congenital Cervical Spinal Deformities.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2022

[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 surgery
2022

A 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 Association
2022

Klippel-Feil Syndrome: Clinical Presentation and Management.

JBJS reviews
2022

The predictive ability of occipital to C3 angle for dysphagia after occipitocervical fusion in patients with combined C2-3 Klippel-Feil syndrome.

BMC musculoskeletal disorders
2022

Outcomes of medial patellofemoral ligament reconstruction and tibial tubercle osteotomy in syndromic adolescents with patellar dislocation.

Journal of clinical orthopaedics and trauma
2022

Cervical myelopathy in a patient with Klippel-Feil syndrome treated with a patient-specific custom cervical spine locking plate.

Spinal cord series and cases
2022

Pediatric 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 Neurosurgery
2021

GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.

Genes
2021

Cervical disc arthroplasty for Klippel-Feil syndrome.

Clinical neurology and neurosurgery
2021

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.

The Journal of the American Academy of Orthopaedic Surgeons
2021

Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.

American journal of medical genetics. Part A
2021

Vertebral Artery Dissection in a Case of Klippel-Feil Syndrome.

Neuropediatrics
2021

Time-efficient shared decision-making for airway management of a patient with intellectual disability and anticipated difficult airway: A case report.

Journal of clinical anesthesia
2021

The Inescapable Conundrum of Klippel-Feil Syndrome Airway: Case Reports.

AANA journal
2021

Role of Atlas Assimilation in the Context of Craniocervical Junction Anomalies.

World neurosurgery
2021

The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.

Molecular genetics &amp; genomic medicine
2021

Klippel-Feil-Like syndrome with urogenital and complex cervical vertebral malformations in a dog.

The Journal of small animal practice
2021

Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background.

BMJ case reports
2021

Klippel-Feil syndrome cases from Slovakia.

International journal of paleopathology
2021

A 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 anesthesiology
2021

Prenatal diagnosis of Sprengel's deformity in a patient with Klippel-Feil Syndrome.

Clinical imaging
2021

Rare cause of paraparesis in a young man: cervico-dorsal neurenteric cysts associated with Klippel-Feil syndrome.

BMJ case reports
2021

[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
2021

Letter 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 genetics
2021

Cervical myelopathy secondary to omovertebral bone in the pediatric patient with Sprengel deformity.

Neurosciences (Riyadh, Saudi Arabia)
2021

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 A
2021

Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.

Clinical genetics
2020

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Human molecular genetics
2021

Sprengel Deformity with Omovertebral Bone Encroaching the Spinal Canal Causing Progressive Cervical Myelopathy: A Technical Case Report.

World neurosurgery
2021

Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.

American journal of medical genetics. Part A
2020

GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.

Cell reports
2020

Intervertebral Disc Calcification and Klippel-Feil Syndrome.

Journal of radiology case reports
2021

Cervical myelopathy in a child with Sprengel shoulder and Klippel-Feil syndrome.

Spine deformity
2020

Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome.

World neurosurgery
2020

Central 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 Medicine
2020

Surgical Treatment for Central Sleep Apnea due to Occipitocervical Compression Myelopathy in a Patient with Klippel-Feil Syndrome.

World neurosurgery
2020

Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.

Plastic and reconstructive surgery
2020

Algorithm for management of sudden unexpected extubation in patient positioned in prone position.

Anaesthesiology intensive therapy
2020

Sprengel Deformity: Comprehensive Evaluation of Concomitant Spinal and Extraspinal Anomalies in 90 Patients.

Spine
2020

Cervical Abnormalities in Severe Spinal Deformity: A 10-year MRI Review.

Orthopaedic surgery
2020

Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature.

World neurosurgery
2020

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

BMC musculoskeletal disorders
2020

Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.

American journal of medical genetics. Part A
2020

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

Gene
2020

Medullary Infarction Leading to Locked-In Syndrome Following Lumbar Puncture in a Patient with Basilar Invagination.

World neurosurgery
2020

Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome.

World neurosurgery
2020

Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.

Spine
2020

Answer 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 Society
2019

Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends.

Journal of craniovertebral junction &amp; spine
2019

KingVision® 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 therapy
2020

Klippel-Feil syndrome: a review of the literature.

Clinical dysmorphology
2020

Proximal Adjacent Segment Disease Manifesting as Retroodontoid Pseudotumor After Fusion to C2.

World neurosurgery
2019

Klippel-Feil Syndrome with Sprengel Deformity.

Journal of radiology case reports
2019

Imaging of Thoracic Wall Abnormalities.

Korean journal of radiology
2020

Intrathoracic bifurcation of the left common carotid artery associated with rib fusion and Klippel-Feil syndrome.

Surgical and radiologic anatomy : SRA
2019

Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

Journal of pediatric orthopedics
2019

Demographics, 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 Society
2020

Developmental 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 paleopathology
2019

Endoscopic Endonasal Approach for Urgent Decompression of Craniovertebral Junction in Syringobulbia.

World neurosurgery
2019

Klippel-Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging.

Echocardiography (Mount Kisco, N.Y.)
2019

Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.

Rheumatology international
2019

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

European journal of medical genetics
2019

[Teenagers with torticollis].

Nederlands tijdschrift voor geneeskunde
2019

Basilar 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
2019

[Klippel-Feil autosomal dominant syndrome: A malformation of vertebral segmentation].

Revista chilena de pediatria
2018

Klippel-Feil syndrom: a duplicated thumb.

The Pan African medical journal
2019

Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.

American journal of medical genetics. Part A
2019

Rare Hereditary Klippel-Feil Syndrome and Arnold-Chiari Malformation Caused by Cervical Spondylotic Myelopathy.

World neurosurgery
2019

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Neuroimaging clinics of North America
2018

Wasp waist sign: Congenital vertebral fusion.

Journal of medical imaging and radiation oncology
2018

Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome.

Journal of anatomy
2018

The Course of the V2 Segment of the Vertebral Arteries in Klippel-Feil Syndrome: A Case Report.

Cureus
2019

Spinal anesthesia with a low dosage of local anesthetic for urgent cesarean delivery in a parturient with Klippel-Feil syndrome.

Journal of clinical anesthesia
2020

Klippel-Feil Syndrome With Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report.

Spine
2018

Dexmedetomidine in difficult airway management with a fibre-optic bronchoscope in the awake patient with Klippel-Feil Syndrome.

Revista espanola de anestesiologia y reanimacion
2018

The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.

Spine deformity
2018

Concomitant Temporomandibular Joint Ankylosis and Maxillomandibular Fusion in a Child with Klippel- Feil Syndrome: A Case Report.

The Journal of clinical pediatric dentistry
2018

"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 Australasia
2017

Anesthetic Management for Twice in a Child with Klippel-Feil Syndrome.

Masui. The Japanese journal of anesthesiology
2017

The 6th Rare Disease South Eastern Europe (See) Meeting, Skopje, Macedonia (November 11th, 2017).

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2018

Anomaly-Related Pathologic Atlantoaxial Displacement in Pediatric Patients.

World neurosurgery
2018

Fusion of cervical vertebrae from a basal archosauromorph from the Middle Triassic Denwa Formation, Satpura Gondwana Basin, India.

International journal of paleopathology
2018

Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review.

Case reports in orthopedics
2018

Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children.

JAMA otolaryngology-- head &amp; neck surgery
2017

An 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, Singapore
2018

Cervical Deformity and Potential Difficult Airway Management in Klippel-Feil Syndrome.

Anesthesiology
2017

Lateral medullary infarction with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and Klippel-Feil syndrome: A case report.

Medicine
2018

A Case of Intrathoracic Carotid Bifurcation Without Klippel-Feil Syndrome.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2017

[Anesthesia in a newborn with Klippel-Feil syndrome].

Revista brasileira de anestesiologia
2017

Unicornuate Uterus in Klippel-Feil Syndrome.

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
2017

[Sedation with dexmedetomidine on Klippel Feil Syndrome infant patient].

Revista brasileira de anestesiologia
2017

Deep Sedation Technique for Dental Rehabilitation of a Patient with Klippel-Feil Syndrome.

Journal of dentistry for children (Chicago, Ill.)
2017

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
2017

[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 surgery
2017

Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.

World neurosurgery
2016

[Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma.].

Archivos argentinos de pediatria
2016

An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.

Molecular genetics and metabolism
2016

Disordered vertebral and rib morphology in pudgy mice. Structural relationships to human scoliosis.

Advances in anatomy, embryology, and cell biology
2016

Airway management in newborn with Klippel-Feil syndrome.

Brazilian journal of anesthesiology (Elsevier)
2016

Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2016

Surgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 Lateral Mass and C2 Fixation and Reduction Technique.

World neurosurgery
2016

The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2016

A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome.

Korean journal of radiology
2016

Monsters 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 focus
2016

Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome.

A &amp; A case reports
2016

Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2016

[A Patient with Klippel-Feil Syndrome Having Difficulties in Inserting and Placing an Endotracheal Tube under General Anesthesia].

Masui. The Japanese journal of anesthesiology
2016

Risk 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 Society
2016

Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate.

Neurosurgery
2018

Arterial thoracic outlet syndrome in Klippel-Feil syndrome.

ANZ journal of surgery
2015

[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 surgery
2016

Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging.

Clinical nuclear medicine
2016

Association of Craniovertebral Junction Anomalies, Klippel-Feil Syndrome, Ruptured Dermoid Cyst and Mirror Movement in One Patient: A Unique Case and Literature Review.

Turkish neurosurgery
2015

Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature.

Journal of medical case reports
2016

Congenital 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 Society
2015

The success of direct laryngoscopy in children with Klippel-Feil Syndrome.

Minerva anestesiologica
2015

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

American journal of medical genetics. Part A
2015

Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.

Journal of pediatric and adolescent gynecology
2015

Case images: A case of Klippel-Feil syndrome with congenital cardiovascular anomalies.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2015

Airway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section.

International journal of obstetric anesthesia
2015

Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2015

Type II Klippel-Feil syndrome with accompanying rare costa deformity: rib fusion.

The spine journal : official journal of the North American Spine Society
2015

Cervical vertebral fusion with anterior meningocele.

The neuroradiology journal
2015

[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 stomatology
2015

Congenital cranial dysinnervation disorder in a boy with congenital mirror movements.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2015

Chiari I malformation with and without basilar invagination: a comparative study.

Neurosurgical focus
2015

Spinal Neurenteric Cyst in Association with Klippel-Feil Syndrome: Case Report and Literature Review.

World neurosurgery
2015

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.

Journal of medical genetics
2015

Intraoperative 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 Society

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.
    International journal of molecular sciences· 2026· PMID 41751889mais citado
  2. Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.
    BMJ case reports· 2026· PMID 41592883mais citado
  3. Revision 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 surgery· 2026· PMID 41699301mais citado
  4. Pathologies of the cervical spine in skeletal syndromes and dysplasias.
    Orthopaedics &amp; traumatology, surgery &amp; research : OTSR· 2026· PMID 40976314mais citado
  5. Successful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.
    British journal of neurosurgery· 2026· PMID 39563083mais citado
  6. Mast cell mediators in hereditary angioedema.
    Orphanet J Rare Dis· 2026· PMID 41832580recente
  7. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  8. Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
    Orphanet J Rare Dis· 2026· PMID 41827036recente
  9. 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.
    Orphanet J Rare Dis· 2026· PMID 41821052recente
  10. Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
    Orphanet J Rare Dis· 2026· PMID 41821046recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:447974(Orphanet)
  2. OMIM OMIM:616549(OMIM)
  3. MONDO:0014689(MONDO)
  4. GARD:17778(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Compêndio · Raras BR

Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial

ORPHA:447974 · MONDO:0014689
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q76.1 · Síndrome de Klippel-Feil
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4225285
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades