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.
Introdução
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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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Journal of craniovertebral junction & spineGrowth-Friendly Spine Surgery in Escobar Syndrome.
Journal of pediatric orthopedicsWiring or Screwing at the Craniovertebral Junction in Childhood: Past and Present Personal Experience.
Acta neurochirurgica. SupplementA Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.
Frontiers in geneticsSpondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up.
World neurosurgeryAn N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.
JBMR plusA novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
Journal of human geneticsSurgical 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 reportsSpondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.
Journal of pediatric orthopedicsThe Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.
Spine deformityRecessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
American journal of human geneticsTreatment of atlantoaxial dislocations among patients with cervical osseous or vascular abnormalities utilizing hybrid techniques.
Journal of neurosurgery. SpineDevelopments in the treatment of Chiari type 1 malformations over the past decade.
Journal of spine surgery (Hong Kong)"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 AustralasiaHomozygous DMRT2 variant associates with severe rib malformations in a newborn.
American journal of medical genetics. Part ASeven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
Clinical geneticsFusion of cervical vertebrae from a basal archosauromorph from the Middle Triassic Denwa Formation, Satpura Gondwana Basin, India.
International journal of paleopathologyRole 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 OrthodonticsOtolaryngologic Manifestations of Klippel-Feil Syndrome in Children.
JAMA otolaryngology-- head & neck surgeryA novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
American journal of medical genetics. Part ALateral medullary infarction with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and Klippel-Feil syndrome: A case report.
MedicineExtreme 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 SocietyAtypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.
The journal of spinal cord medicinePosterior-only Hemivertebra Resection for Congenital Cervicothoracic Scoliosis: Correcting Neck Tilt and Balancing the Shoulders.
SpineCorrosion 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 SocietyCurrent Concepts - Congenital Scoliosis.
The open orthopaedics journalNovel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
European journal of medical geneticsDouble 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[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 surgeryComplete occipitalization of the atlas with bilateral external auditory canal atresia.
Surgical and radiologic anatomy : SRAFilamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Human mutationCongenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.
World neurosurgery[Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma.].
Archivos argentinos de pediatriaCervical disc herniation as a trigger for temporary cervical cord ischemia.
Journal of spine surgery (Hong Kong)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 neurosurgerySurgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 Lateral Mass and C2 Fixation and Reduction Technique.
World neurosurgeryThe intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryHeterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
American journal of human geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.
- Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.
- Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.
- Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.
- Demonstration of the importance of MRI in preoperative evaluation of adolescent idiopathic scoliosis.
- Complete, Sustained Resolution of Pain With Pseudoarthrectomy for Bertolotti Syndrome: A Case Report.
- [Bertolotti syndrome: an often overlooked cause of specific back pain].
- Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.
- Progressive scoliosis associated with microphthalmia with limb anomalies: A case report.
- Novel FGF9 variant contributes to multiple synostoses syndrome 3.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2522(Orphanet)
- OMIM OMIM:251250(OMIM)
- MONDO:0009621(MONDO)
- GARD:3610(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
