Raras
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Síndrome de microcefalia-fusão das vértebras cervicais
ORPHA:2522CID-10 · Q87.8CID-11 · LD20.2OMIM 251250DOENÇA RARA

A síndrome de microcefalia-anomalias de fusão da coluna cervical é caracterizada por microcefalia, dismorfismo facial (nariz adunco, orelhas baixas, fissuras palpebrais inclinadas para baixo, micrognatia), déficit intelectual leve, baixa estatura e anomalias de fusão da coluna cervical que produzem compressão da medula espinhal. Foi descrito em dois irmãos nascidos de pais consangüíneos. A transmissão provavelmente será autossômica recessiva.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de microcefalia-anomalias de fusão da coluna cervical é caracterizada por microcefalia, dismorfismo facial (nariz adunco, orelhas baixas, fissuras palpebrais inclinadas para baixo, micrognatia), déficit intelectual leve, baixa estatura e anomalias de fusão da coluna cervical que produzem compressão da medula espinhal. Foi descrito em dois irmãos nascidos de pais consangüíneos. A transmissão provavelmente será autossômica recessiva.

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
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷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
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
8 sintomas
😀
Face
5 sintomas
🧠
Neurológico
3 sintomas
👁️
Olhos
2 sintomas
👂
Ouvidos
1 sintomas
🦷
Dentes
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

90%prev.
Dorso nasal convexo
Muito frequente (99-80%)
90%prev.
Testa inclinada
Muito frequente (99-80%)
90%prev.
Vértebras cervicais fundidas
Muito frequente (99-80%)
90%prev.
Hiperlordose
Muito frequente (99-80%)
90%prev.
Orelhas de implantação baixa
Muito frequente (99-80%)
90%prev.
Microcefalia
Muito frequente (99-80%)
30sintomas
Muito frequente (17)
Frequente (9)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 características clínicas mais associadas, ordenadas por frequência.

Dorso nasal convexoConvex nasal ridge
Muito frequente (99-80%)90%
Testa inclinadaSloping forehead
Muito frequente (99-80%)90%
Vértebras cervicais fundidasFused cervical vertebrae
Muito frequente (99-80%)90%
HiperlordoseHyperlordosis
Muito frequente (99-80%)90%
Orelhas de implantação baixaLow-set ears
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202529 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de microcefalia-fusão das vértebras cervicais

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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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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.

#2

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.

#3

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Cureus2026 Jan

Noonan syndrome with multiple lentigines (NSML) is an allelic variant of Noonan syndrome (NS), which can exhibit multisystemic features, including sensorineural hearing loss (SNHL) and skeletal anomalies. We report on a patient with this rare condition who developed an uncommon syndromic feature of severe lordoscoliosis requiring surgical intervention, whose comorbidities complicated the perioperative course, including the preclusion of magnetic resonance imaging (MRI) and relative contraindication to transcranial motor evoked potentials (TcMEPs). We discuss the use of preoperative computed tomography (CT) and somatosensory evoked potentials (SSEPs) in facilitating the consent process for surgery where MRI and TcMEPs are impracticable, as well as the intraoperative measures taken to minimise complications in this case. We also highlight the importance of multispecialty, multidisciplinary involvement in the management of such patients. In this patient whose severe lordoscoliosis led to persistent back pain and airway compression, posterior spinal fusion achieved satisfactory deformity correction and excellent clinical outcome, which was maintained at follow-up.

#4

Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.

Journal of orthopaedic case reports2026 Jan

Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facial features, intellectual disability, and multiple musculoskeletal anomalies, including scoliosis, kyphosis, and generalized ligamentous laxity. The combination of connective tissue fragility and complex spinal deformity may predispose these patients to post-operative complications, such as proximal junctional kyphosis (PJK), though this association has not previously been reported. We report a 15-year-old male with genetically confirmed KS who presented with severe thoracic hyperkyphosis (95°). Posterior spinal fusion and correction were performed, resulting in initial improvement. Within 8 months, the patient developed PJK above the upper instrumented vertebra, requiring multiple revision procedures. Post-operative infection with Staphylococcus aureus and rapid recurrent kyphosis further complicated management. A staged revision strategy, combining halo-gravitational traction followed by extended fusion and careful sagittal realignment, achieved stable correction and functional improvement at 1-year follow-up. The association between these conditions has, to our knowledge, not yet been reported in literature. This case highlights the multifactorial etiology of PJK in KS, where intrinsic ligamentous laxity, immune dysfunction, and extensive deformity correction converge to increase mechanical vulnerability. Soft-tissue preservation at the upper instrumented level, careful sagittal contouring, and infection control are key preventive strategies. Due to inherent ligamentous laxity and connective tissue abnormalities, patients with KS could be predisposed to proximal junctional failure after spinal deformity correction. Pre-operative recognition of connective tissue and immunologic abnormalities, together with detailed surgical planning, is essential to minimize complications and optimize long-term outcomes.

#5

Demonstration of the importance of MRI in preoperative evaluation of adolescent idiopathic scoliosis.

Spine deformity2026 Mar

To demonstrate the utility of routine preoperative magnetic resonance imaging (MRI) in detecting neural axis abnormalities in presumed adolescent idiopathic scoliosis (AIS) patients. A retrospective analysis of pediatric patients who underwent posterior spinal instrumentation and fusion (PSIF) for presumed AIS at a single institution over 14 years. Patients with syndromic, congenital, or neuromuscular scoliosis were excluded. MRI findings, history and exam findings, and neurosurgery consultation/intervention were documented. Among 233 patients with presumed AIS who underwent routine preoperative MRI, 24 (10.3%) had positive findings, including Arnold-Chiari malformations, syringomyelia, and tethered cords. Five patients (2.1%) required neurosurgical intervention before PSIF; only one exhibited an atypical curve pattern before MRI. The remaining cases did not alter surgical plans but required consultation with neurosurgery. Routine MRI in presumed AIS patients identified neural axis abnormalities in a subset of patients who otherwise lacked neurological indicators. These findings support the consideration of preoperative MRI in AIS management to optimize surgical planning and patient safety.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

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

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Cureus
2026

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

BMJ case reports
2026

Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.

Journal of orthopaedic case reports
2026

Demonstration of the importance of MRI in preoperative evaluation of adolescent idiopathic scoliosis.

Spine deformity
2026

Anterior Decompression of L5 Nerve Root for Far-Out Syndrome Due to Anterolateral Vertebral Osteophyte Formation: 2 Case Reports and Literature Review.

International journal of spine surgery
2025

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Cureus
2025

CHARGE Syndrome and Scoliosis: A Multicenter Study Highlighting Elevated Surgical Complications.

Journal of pediatric orthopedics
2025

Spinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature.

Congenital anomalies
2025

Anesthetic Considerations for and Management of a Parturient With Jarcho-Levin Syndrome: A Case Report of Continuous Spinal Anesthesia for Preterm Cesarean Section.

Cureus
2025

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Frontiers in pediatrics
2025

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

Radiology case reports
2025

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.

Medicine
2025

Pediatric Craniovertebral Junction Anomalies: A Literature Review.

Cureus
2025

Neurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Spinopelvic fixation surgery in relation to the femoroacetabular impingement syndrome under the ultrasound.

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

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Australasian journal of ultrasound in medicine
2025

How to Apply the Sequential Correction Technique to Treatment of Congenital Cervicothoracic Scoliosis: A Technical Note and Case Series.

Orthopaedic surgery
2025

Operative management of congenital early-onset scoliosis using the vertical expandable prosthetic titanium rib (VEPTR): a case series.

World journal of pediatric surgery
2025

Complete, Sustained Resolution of Pain With Pseudoarthrectomy for Bertolotti Syndrome: A Case Report.

Pain medicine case reports
2025

Posterior C1-C2 fixation for atlantoaxial instability due to a dysplastic C1 arch, complicated by an accidental vertebral artery injury managed with intravascular intervention and salvage contralateral unilateral fusion.

Journal of surgical case reports
2025

[Bertolotti syndrome: an often overlooked cause of specific back pain].

Orthopadie (Heidelberg, Germany)
2025

Prevalence of upper cervical vertebral anomalies in children with non-syndromic cleft lip and/or palate in comparison with children without cleft in Iranian population.

BMC oral health
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

A Case Study of Bertolotti's Syndrome in an Adolescent Patient.

Cureus
2025

Isolated congenital vertebral anomaly and Sprengel's deformity in a WBP11 pathogenic variant.

European journal of medical genetics
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

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.

Molecular autism
2025

Head Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers-Danlos Syndrome.

Orthodontics &amp; craniofacial research
2025

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

Journal of osteopathic medicine
2025

Craniovertebral Junction Anomalies: World Federation of Neurosurgical Societies Spine Committee Recommendations Overview.

Spine
2025

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

Radiology case reports
2024

Cervical spinal decompression and fusion in the setting of Wolcott-Rallison Syndrome: a rare pediatric indication and its surgical considerations.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report.

Journal of Yeungnam medical science
2025

Spine deformity surgery in patients with Beals syndrome can be effectively performed but does risk revision surgery.

Spine deformity
2024

Posterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases.

JBJS case connector
2024

Long-term results of single-stage posterior hemivertebra resection and short segment fusion using pedicle screws fixation in thoracolumbar congenital early-onset scoliosis: an 8.97-year average follow-up study.

BMC musculoskeletal disorders
2024

Unique Case of Cervical Split Cord Malformation Type II and Klippel-Feil Syndrome in a Male Patient Symptomatically Treated With Ultrasound-Guided Botulinum Toxin Injection.

Cureus
2024

Early Occipitocervical Fusion Surgery in a Rare Clinical Encounter of Non-traumatic Atlantooccipital Subluxation (AOS) in Down Syndrome (Trisomy 21).

Cureus
2024

Database Review of 514 Patients with Os Odontoideum. Detailed Analysis of 258 Surgically Treated (1978-2019).

Advances and technical standards in neurosurgery
2025

Optimizing sacral screw fixation in patients with caudal regression syndrome.

Spine deformity
2024

Philosophies And Surgical Techniques on Os Odontoideum Treatment with Literature Review.

Journal of orthopaedic case reports
2024

Bow Hunter's Syndrome with Rotational Atlantoaxial Instability: A Rare Association.

Asian journal of neurosurgery
2024

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

Orthopadie (Heidelberg, Germany)
2024

Sprengel's Deformity: A Paediatric Case Report.

Cureus
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

A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.

Journal of basic and clinical physiology and pharmacology
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

Pre-op considerations in neuromuscular scoliosis deformity surgery: proceedings of the half day course at the 58th annual meeting of the Scoliosis Research Society.

Spine deformity
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

Natural history of craniovertebral abnormalities in a single-center study in 54 patients with Hurler syndrome.

Journal of neurosurgery. Pediatrics
2024

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

Journal of medical case reports
2024

Long-term outcomes in sacral agenesis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

A Rare Case of Grisel's Syndrome in A 6-Year-Old Child.

Journal of orthopaedic case reports
2024

Radiologic Examination of High Riding Vertebral Artery and Analysis of Secure Areas.

World neurosurgery
2023

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

Journal of medical case reports
2024

Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome).

The Journal of bone and joint surgery. American volume
2023

The Reoperation, Readmission, and Complication Rates at 30 Days Following Lumbar Decompression for Cauda Equina Syndrome.

Cureus
2023

Techniques for restoring optimal spinal biomechanics to alleviate symptoms in Bertolotti syndrome: illustrative case.

Journal of neurosurgery. Case lessons
2024

Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus.

Radiology case reports
2023

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

Cureus
2023

Congenital Torticollis in a Child With Cervical Spine Deformity: A Case Report and Literature Review.

Cureus
2024

[Growth-preserving instrumentation for early onset scoliosis].

Operative Orthopadie und Traumatologie
2023

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

The Yale journal of biology and medicine
2023

Larsen Syndrome and Associated Spinal Deformities.

Cureus
2023

Case of the False Fracture: A Report of a Radiographic Stitching Error in a Scoliosis Patient.

JBJS case connector
2023

Spinal Fusion in Patients With Classic Amyoplasia and General Arthrogryposis.

Journal of pediatric orthopedics
2023

Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.

EMBO molecular medicine
2023

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.

Human molecular genetics
2023

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.

American journal of medical genetics. Part A
2023

Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification.

Diagnostics (Basel, Switzerland)
2023

Congenital Vertebral Malformation in a Neonatal Elk (Cervus canadensis) in Kentucky, USA.

Journal of wildlife diseases
2023

Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.

Prenatal diagnosis
2023

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

Orthopaedic surgery
2023

Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS.

Bone
2023

Posterior Atlantoaxial Fusion With C1-2 Pedicle Screw Fixation for Atlantoaxial Dislocation in Pediatric Patients With Mucopolysaccharidosis IVA (Morquio a Syndrome): A Case Series.

World neurosurgery
2023

Progressive scoliosis associated with microphthalmia with limb anomalies: A case report.

Medicine
2023

Subdural hygroma as a rare complication after revision spine surgery.

BMJ case reports
2023

Vertebral Anomalies in Microtia Patients at a Tertiary Pediatric Care Center.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2023

Congenital atlanto-occipital dislocation in a patient with Down syndrome: a case report.

Skeletal radiology
2023

Endoscopic Resection of Pseudoarticulation as a Treatment for Bertolotti's Syndrome.

Cureus
2022

Sirenomelia with associated systemic anomalies - an autopsy report in a full term neonate.

Polish journal of pathology : official journal of the Polish Society of Pathologists
2024

Craniocervical fusion in the paediatric population - case series of 21 patients.

British journal of neurosurgery
2023

A porcine model of early-onset scoliosis combined with thoracic insufficiency syndrome: Construction and transcriptome analysis.

Gene
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
2022

Undifferentiated presentation of unilateral agenesis of a cervical pedicle and a contiguous vertebral hemangioma: illustrative case.

Journal of neurosurgery. Case lessons
2022

Role of electromyography and ultrasonography in the diagnosis of double crush lumbar radiculopathy and common fibular injury: illustrative cases.

Journal of neurosurgery. Case lessons
2023

Costello syndrome-associated orthopaedic manifestations focussed on kyphoscoliosis: a case series describing the natural course.

Journal of pediatric orthopedics. Part B
2022

Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.

Pediatric surgery international
2022

Operative Treatment of Bertolotti Syndrome: Resection Versus Fusion.

World neurosurgery
2022

Intra-Operative Neurophysiological Monitoring in Patients with Intraspinal Abnormalities Undergoing Posterior Spinal Fusion.

Orthopaedic surgery
2022

[Long-term observation of the effect of atlantoaxial fusion on the growth and development of children's cervical spine].

Zhonghua wai ke za zhi [Chinese journal of surgery]
2022

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Neuromuscular disorders : NMD
2022

Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome.

Surgical neurology international
2022

Novel FGF9 variant contributes to multiple synostoses syndrome 3.

American journal of medical genetics. Part A
2022

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

European journal of translational myology
2022

Klippel-Feil Syndrome: Clinical Presentation and Management.

JBJS reviews
2021

Evaluation of the cervical vertebral anomalies in patients with cleft lip and palate in Aegean region of Turkey.

JPMA. The Journal of the Pakistan Medical Association
2022

Multilevel Stabilization Screws Prevent Proximal Junctional Failure and Kyphosis in Adult Spinal Deformity Surgery: A Comparative Cohort Study.

Operative neurosurgery (Hagerstown, Md.)
2021

Hypoplasia of C1's posterior arch: Is there an ideal anatomical classification?

Surgical neurology international
2022

Anterior longitudinal ligament release from a posterior approach: an alternative to three-column osteotomy.

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
2022

The craniovertebral junction, between osseous variants and abnormalities: insight from a paleo-osteological study.

Anatomical science international
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

Pediatric Back Pain Associated with Bertolotti Syndrome: A Report of 3 Cases with Varying Treatment Strategies.

JBJS case connector
2021

Posterior instrumented fusion on lumbar stenosis syndrome can bring benefit to proximal degenerative kyphosis: A CONSORT-compliant article.

Medicine
2021

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Genes
2021

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

The Journal of the American Academy of Orthopaedic Surgeons
2021

Occipitocervical instrumented fixation utilising patient-specific C2 3D-printed spinal screw trajectory guides in complex paediatric skeletal dysplasia.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

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

AANA journal
2021

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

BMJ case reports
2021

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Genes
2020

Craniovertebral junction instability in Larsen syndrome: An institutional series and review of literature.

Journal of craniovertebral junction &amp; spine
2021

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

Clinical imaging
2021

Comparative proteomics analysis for identifying the lipid metabolism related pathways in patients with Klippel-Feil syndrome.

Annals of translational medicine
2021

A case report of Jarcho-Levin syndrome.

Journal of family &amp; community medicine
2021

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

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

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

BMC musculoskeletal disorders
2020

A 16-Year-Old Male with Thoracic Compression following Posterior Spinal Instrumentation and Fusion for Marfan-Associated Syndromic Scoliosis.

Case reports in orthopedics
2021

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

World neurosurgery
2021

Is detethering necessary before deformity correction in congenital scoliosis associated with tethered cord syndrome: a meta-analysis of current evidence.

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

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

American journal of medical genetics. Part A
2020

When Limb Surgery Has Become the Only Life-Saving Therapy in FOP: A Case Report and Systematic Review of the Literature.

Frontiers in endocrinology
2020

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Molecular genetics &amp; genomic medicine
2021

Spinal shortening osteotomy for adult tethered cord syndrome evaluated by intraoperative ultrasonography.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2020

Single-center series of boys with recurrent strokes and rotational vertebral arteriopathy.

Neurology
2020

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

World neurosurgery
2020

Aortic stenosis of a bicuspid aortic valve in a patient with Klippel-Feil syndrome: a case report.

European heart journal. Case reports
2020

Bertolotti syndrome: a not-to-miss cause of chronic low back pain in young adults.

Acta reumatologica portuguesa
2020

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

American journal of medical genetics. Part A
2020

Posterior Direct Reduction of Lateral Atlantoaxial Joints for Rigid Pediatric Atlantoaxial Subluxation: A Fulcrum Lever Technique.

Spine
2020

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

World neurosurgery
2020

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.

Cold Spring Harbor molecular case studies
2020

Spinal Deformity in Sotos Syndrome: First Results of Growth-friendly Spine Surgery.

Journal of pediatric orthopedics
2020

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

BMC musculoskeletal disorders
2019

Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report).

Journal of radiology case reports
2020

Cervical Rib Synostosis to the First Rib: A Rare Anatomic Variation.

World neurosurgery
2020

A Juvenile Case of Bow Hunter's Syndrome Caused by Atlantoaxial Dislocation with Vertebral Artery Dissecting Aneurysm.

World neurosurgery
2020

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

World neurosurgery
2020

Anaesthetic management of a parturient with spondylothoracic dysostosis.

BMJ case reports
2020

Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia.

Spine deformity
2020

Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.

Spine
2020

Atlas assimilation: spectrum of associated radiographic abnormalities, clinical presentation, and management in children below 10 years.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

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

Journal of craniovertebral junction &amp; spine
2020

Genetic factors in isolated and syndromic laryngeal cleft.

Paediatric respiratory reviews
2019

C1 Stenosis - An Easily Missed Cause for Cervical Myelopathy.

Neurospine
2020

Klippel-Feil syndrome: a review of the literature.

Clinical dysmorphology
2020

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

Surgical and radiologic anatomy : SRA
2019

The Clinical Utility of Flexion-extension Cervical Spine MRI in 22q11.2 Deletion Syndrome.

Journal of pediatric orthopedics
2019

The Effect of Expansion Thoracostomy on Spine Growth in Patients with Spinal Deformity and Fused Ribs Treated with Rib-Based Growing Constructs.

Spine deformity
2020

Postoperative Complications Associated With Metabolic Syndrome Following Adult Spinal Deformity Surgery.

Clinical spine surgery
2019

Extraforaminal Vertebral Artery Until C2 Transverse Foramen in Down Syndrome Patient Affected by Atlantoaxial Subluxation: First Observation and Review of Literature.

World neurosurgery
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
2019

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.

Molecular genetics &amp; genomic medicine
2019

Problems in Instrumentation of Syndromic Craniovertebral Junction Anomalies - Case Reports.

Neurospine
2019

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

Rheumatology international
2019

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

Revista chilena de pediatria
2019

Occipitocervical Osteotomies and Interfacet Grafts for Reduction of Occipitocervical Kyphosis and Basilar Invagination.

World neurosurgery
2019

Occipitocervical or C1-C2 fusion using allograft bone in pediatric patients with Down syndrome 8 years of age or younger.

Journal of pediatric orthopedics. Part B
2019

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Journal of human genetics
2018

Performing the screw fixation from C3 to odontoid process in a patient with Klippel-Feil syndrome and type II odontoid fracture.

Journal of craniovertebral junction &amp; spine
2019

Growth-Friendly Spine Surgery in Escobar Syndrome.

Journal of pediatric orthopedics
2019

Wiring or Screwing at the Craniovertebral Junction in Childhood: Past and Present Personal Experience.

Acta neurochirurgica. Supplement
2018

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.

Frontiers in genetics
2019

Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up.

World neurosurgery
2018

An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.

JBMR plus
2018

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Journal of human genetics
2018

Surgical Treatment of a Rare Presentation of Bertolotti's Syndrome from Castellvi Type IV Lumbosacral Transitional Vertebra: Case Report and Review of the Literature.

Journal of neurological surgery reports
2018

Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.

Journal of pediatric orthopedics
2018

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

Spine deformity
2018

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

American journal of human genetics
2018

Treatment of atlantoaxial dislocations among patients with cervical osseous or vascular abnormalities utilizing hybrid techniques.

Journal of neurosurgery. Spine
2018

Developments in the treatment of Chiari type 1 malformations over the past decade.

Journal of spine surgery (Hong Kong)
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
2018

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

American journal of medical genetics. Part A
2018

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Clinical genetics
2018

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

International journal of paleopathology
2018

Role of cone-beam computed tomography with a large field of view in Goldenhar syndrome.

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics
2018

Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children.

JAMA otolaryngology-- head &amp; neck surgery
2018

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

American journal of medical genetics. Part A
2017

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

Medicine
2018

Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review.

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
2018

Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.

The journal of spinal cord medicine
2018

Posterior-only Hemivertebra Resection for Congenital Cervicothoracic Scoliosis: Correcting Neck Tilt and Balancing the Shoulders.

Spine
2018

Corrosion of Harrington rod in idiopathic scoliosis: long-term effects.

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
2017

Current Concepts - Congenital Scoliosis.

The open orthopaedics journal
2017

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

European journal of medical genetics
2019

Double crush syndrome caused by cervical spondylosis and vertebral artery loop.

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
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

Complete occipitalization of the atlas with bilateral external auditory canal atresia.

Surgical and radiologic anatomy : SRA
2017

Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.

Human mutation
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

Cervical disc herniation as a trigger for temporary cervical cord ischemia.

Journal of spine surgery (Hong Kong)
2016

Development of a Metastatic Spinal Tumor Frailty Index (MSTFI) Using a Nationwide Database and Its Association with Inpatient Morbidity, Mortality, and Length of Stay After Spine Surgery.

World neurosurgery
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

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

American journal of human genetics

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Doenças relacionadas

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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.

  1. Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.
    BMJ case reports· 2026· PMID 41592883mais citado
  2. 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
  3. Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.
    Cureus· 2026· PMID 41694882mais citado
  4. Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.
    Journal of orthopaedic case reports· 2026· PMID 41541477mais citado
  5. Demonstration of the importance of MRI in preoperative evaluation of adolescent idiopathic scoliosis.
    Spine deformity· 2026· PMID 41326948mais citado
  6. Complete, Sustained Resolution of Pain With Pseudoarthrectomy for Bertolotti Syndrome: A Case Report.
    Pain Med Case Rep· 2025· PMID 40331807recente
  7. [Bertolotti syndrome: an often overlooked cause of specific back pain].
    Orthopadie (Heidelb)· 2025· PMID 40301172recente
  8. Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.
    EMBO Mol Med· 2023· PMID 37492882recente
  9. Progressive scoliosis associated with microphthalmia with limb anomalies: A case report.
    Medicine (Baltimore)· 2023· PMID 36961133recente
  10. Novel FGF9 variant contributes to multiple synostoses syndrome 3.
    Am J Med Genet A· 2022· PMID 35316564recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2522(Orphanet)
  2. OMIM OMIM:251250(OMIM)
  3. MONDO:0009621(MONDO)
  4. GARD:3610(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782102(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

Síndrome de microcefalia-fusão das vértebras cervicais
Compêndio · Raras BR

Síndrome de microcefalia-fusão das vértebras cervicais

ORPHA:2522 · MONDO:0009621
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0796066
Wikidata
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