Raras
Buscar doenças, sintomas, genes...
Síndrome Crouzon
ORPHA:207CID-10 · Q75.1CID-11 · LD24.G1OMIM 123500DOENÇA RARA

A doença de Crouzon é caracterizada por craniossinostose e hipoplasia facial.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A doença de Crouzon é caracterizada por craniossinostose e hipoplasia facial.

Pesquisas ativas
1 ensaio
40 total registrados no ClinicalTrials.gov
Publicações científicas
729 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q75.1
🇧🇷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?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

😀
Face
10 sintomas
👁️
Olhos
8 sintomas
🦴
Ossos e articulações
6 sintomas
👂
Ouvidos
4 sintomas
🧠
Neurológico
4 sintomas
🫁
Pulmão
2 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

100%prev.
Deficiência auditiva condutiva
Frequente (79-30%)
100%prev.
Dorso nasal convexo
Ocasional (29-5%)
100%prev.
Proptose
Frequente (79-30%)
100%prev.
Retrusão médio-facial
Frequente (79-30%)
100%prev.
Hipertelorismo
Frequente (79-30%)
100%prev.
Craniossinostose coronal
Frequência: 8/8
51sintomas
Muito frequente (14)
Frequente (9)
Ocasional (14)
Muito raro (1)
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 51 características clínicas mais associadas, ordenadas por frequência.

Deficiência auditiva condutivaConductive hearing impairment
Frequente (79-30%)100%
Dorso nasal convexoConvex nasal ridge
Ocasional (29-5%)100%
ProptoseProptosis
Frequente (79-30%)100%
Retrusão médio-facialMidface retrusion
Frequente (79-30%)100%
HipertelorismoHypertelorism
Frequente (79-30%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico729PubMed
Últimos 10 anos200publicações
Pico202247 papers
Linha do tempo
2026Hoje · 2026🧪 2005Primeiro ensaio clínico📈 2022Ano 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

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

ERFETS domain-containing transcription factor ERFDisease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Oncogene Induced Senescence
MECANISMO DE DOENÇA

Craniosynostosis 4

A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.

EXPRESSÃO TECIDUAL(Ubíquo)
Fallopian Tube
95.0 TPM
Nervo tibial
86.2 TPM
Útero
85.8 TPM
Ovário
72.8 TPM
Cervix Endocervix
71.0 TPM
INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (4)
Chitayat syndromecraniosynostosis 4Crouzon syndromecraniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome
HGNC:3444UniProt:P50548
FGFR2Fibroblast growth factor receptor 2Disease-causing germline mutation(s) (gain of function) inAltamente restrito
FUNÇÃO

Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is

LOCALIZAÇÃO

Cell membraneGolgi apparatusCytoplasmic vesicleSecreted

VIAS BIOLÓGICAS (1)
Signaling by FGFR2 amplification mutants
MECANISMO DE DOENÇA

Crouzon syndrome

An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
130.1 TPM
Útero
43.5 TPM
Skin Sun Exposed Lower leg
41.0 TPM
Cólon sigmoide
39.0 TPM
Skin Not Sun Exposed Suprapubic
37.3 TPM
OUTRAS DOENÇAS (15)
Saethre-Chotzen syndromegastric cancerJackson-Weiss syndromePfeiffer syndrome
HGNC:3689UniProt:P21802

Variantes genéticas (ClinVar)

438 variantes patogênicas registradas no ClinVar.

🧬 ERF: NM_006494.4(ERF):c.933del (p.Lys311fs) ()
🧬 ERF: NM_006494.4(ERF):c.121G>T (p.Glu41Ter) ()
🧬 ERF: NM_006494.4(ERF):c.947C>A (p.Ala316Asp) ()
🧬 ERF: NM_006494.4(ERF):c.320A>G (p.Asn107Ser) ()
🧬 ERF: NM_006494.4(ERF):c.679dup (p.His227fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 271 variantes classificadas pelo ClinVar.

54
217
Patogênica (19.9%)
VUS (80.1%)
VARIANTES MAIS SIGNIFICATIVAS
FGFR2: NM_000141.5(FGFR2):c.1076T>C (p.Val359Ala) [Likely pathogenic]
FGFR2: NM_000141.5(FGFR2):c.1287+1G>A [Likely pathogenic]
FGFR2: NM_000141.5(FGFR2):c.151G>A (p.Val51Met) [Conflicting classifications of pathogenicity]
FGFR2: NM_000141.5(FGFR2):c.556A>G (p.Met186Val) [Conflicting classifications of pathogenicity]
FGFR3: NM_000142.5(FGFR3):c.166G>A (p.Ala56Thr) [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 Crouzon

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

40 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
358 papers (10 anos)
#1

Innovative Pediatric Simulator for Difficult Airway Management Training.

IEEE journal of translational engineering in health and medicine2026

Este estudo desenvolveu e validou um simulador pediátrico de alta fidelidade para treinamento em manejo de via aérea difícil, especificamente projetado a partir de dados de um paciente com Síndrome de Crouzon. Criado com modelagem 3D baseada em exames de imagem reais, o manequim oferece realismo anatômico para que médicos pratiquem intubações complexas, como as guiadas por fibra óptica. Isso aumenta a confiança e as habilidades dos profissionais, resultando em maior segurança e melhores resultados para crianças que necessitam de manejo de via aérea desafiador.

🇧🇷 traduzido
#2

En-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery2026 May

Este artigo descreve um novo tratamento promissor para pacientes com Síndrome de Crouzon grave e malformação de Chiari I persistente, que não respondem aos tratamentos padrão. A técnica, inédita, consiste em uma distração da abóbada posterior "en-bloc" que incorpora o forame magno, expandindo simultaneamente a restrição craniana posterior e a fossa posterior. Nos dois casos apresentados, este método resultou na completa resolução dos sintomas, desaparecimento da siringomielia e normalização da anatomia, demonstrando a viabilidade e eficácia de uma abordagem inovadora para condições complexas e refratárias.

🇧🇷 traduzido
#3

[Clinical analysis of pregnancy outcomes and prognosis for fetal ventriculomegaly].

Zhonghua fu chan ke za zhi2026 Feb 25

Este estudo retrospectivo sobre ventriculomegalia fetal (VM) revela que a VM moderada a grave, bilateral, progressiva na gestação ou combinada com anomalias genéticas são fatores de risco independentes para interrupção da gravidez. Em contraste, um alto nível educacional materno foi um fator protetor para o nascimento de bebês vivos, que na maioria dos casos (139 de 145) apresentaram desenvolvimento normal, embora alguns casos isolados incluíssem síndrome de Crouzon ou atrasos no desenvolvimento. Os resultados reforçam a necessidade de uma equipe multidisciplinar e acompanhamento dinâmico a longo prazo para o manejo clínico de fetos com VM.

🇧🇷 traduzido
#4

Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery2026 Feb 25

Este estudo comparou a morfologia da fossa posterior em síndromes de Apert e Crouzon antes e depois da expansão da abóbada craniana posterior (PCVE). Os resultados mostraram que, enquanto pacientes com Apert se beneficiaram com aumentos significativos no volume da fossa posterior após a cirurgia, pacientes com Crouzon apresentaram melhorias limitadas e, em muitos casos, uma diminuição na proporção volume da fossa posterior/volume intracraniano. Embora a PCVE tenha aumentado o volume, ela não pareceu melhorar a forma da fossa posterior em nenhuma das síndromes, sugerindo que os benefícios para pacientes com Crouzon podem ser mais restritos do que para Apert, o que é relevante para o planejamento cirúrgico e as expectativas.

🇧🇷 traduzido
#5

Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.

Radiology case reports2026 May

Este artigo relata um caso de Síndrome de Crouzon com uma apresentação atípica, onde apenas as suturas temporo-parietais estavam fechadas, resultando em hipertensão intracraniana grave, e causado por uma mutação genética nova (de novo). Para pacientes e médicos, o estudo enfatiza a importância da sequenciação de nova geração (NGS) para um diagnóstico diferencial e preciso, especialmente em casos com manifestações sutis ou incomuns da síndrome, confirmando o diagnóstico e orientando o melhor tratamento.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC358 artigos no totalmostrando 198

2026

Innovative Pediatric Simulator for Difficult Airway Management Training.

IEEE journal of translational engineering in health and medicine
2026

En-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2026

[Clinical analysis of pregnancy outcomes and prognosis for fetal ventriculomegaly].

Zhonghua fu chan ke za zhi
2026

Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2026

Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.

Radiology case reports
2026

Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

International journal of pediatric otorhinolaryngology
2026

Analysis of the Learning Curve for a Surgeon Newly Trained in Frontofacial Monobloc Advancement.

The Journal of craniofacial surgery
2025

Crouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome.

JPRAS open
2025

[Intermediate butterfly osteotomy with rigid external distraction in Crouzon syndromes].

Annales de chirurgie plastique et esthetique
2025

Positive Impact of Frontofacial Advancement on Intracranial Volumes in Patients With Syndromic Craniofaciosynostosis.

Plastic and reconstructive surgery. Global open
2026

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis.

Orthodontics &amp; craniofacial research
2026

Contributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.

European journal of paediatric dentistry
2025

A Lifelong Battle With Crouzon Syndrome: A Detailed Case Report of Extensive Craniofacial Surgeries and Complex Psychiatric Care.

Cureus
2025

Crouzon syndrome: preimplantation genetic testing for a familial case with a whole and a mosaic variant of the disease.

Vavilovskii zhurnal genetiki i selektsii
2025

Use of cartilage-conduction hearing aids in a child with Crouzon syndrome and meatal atresia.

Auris, nasus, larynx
2025

Mechanistic Role of PIEZO1 in Crouzon Syndrome: Osteogenic Regulation By FGFR2-Mutated Periosteal Progenitors at the Ossification Interface.

The Journal of craniofacial surgery
2025

Highlighting posterior cranial vault expansion remodeling for treating various types of craniosynostosis in children.

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

Differential impact of Crouzon and Apert syndromes on upper airways morphology: implications for Obstructive Sleep Apnoea.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2026

The influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis.

Journal of anatomy
2025

Facial asymmetry in syndromic craniosynostosis patients undergoing midface surgery compared to a large general population.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.

The Journal of craniofacial surgery
2025

Clinical Nasal Deviation Following Midface Advancement in Patients With Syndromic Craniosynostosis.

The Journal of craniofacial surgery
2025

The cranial base and midface characteristics in apert and Crouzon syndrome: A 3-dimensional analysis of morphological variations.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Unlocking the potential of allele-specific siRNA therapy: A novel approach for Crouzon syndrome.

Molecular therapy. Nucleic acids
2025

Airway management of a child of Crouzon syndrome with midface distractor in situ.

Journal of anaesthesiology, clinical pharmacology
2025

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.

American journal of medical genetics. Part A
2025

Structural and functional stenosis of the upper airway in Crouzon syndrome patients: A computational fluid dynamics analysis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Perioperative Airway Management for Midface Surgery in Children With Syndromic Craniosynostosis; a Single Center Experience With Immediate Extubation.

Paediatric anaesthesia
2025

Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome.

Molecular therapy. Nucleic acids
2025

FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia.

Bone research
2025

Simultaneous Lefort 2 Distraction and Fronto-Orbito-Malar Advancement: Correcting Severe Upper and Midface Retrusion in a Patient With Crouzon Syndrome.

The Journal of craniofacial surgery
2024

Bilevel positive airway pressure treatment of sleep apnea syndrome in a patient with Crouzon syndrome.

Sleep &amp; breathing = Schlaf &amp; Atmung
2025

Near SUDEP in a patient with craniosynostosis syndrome and temporal lobe encephaloceles.

Epileptic disorders : international epilepsy journal with videotape
2024

Role of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.

Orthodontics &amp; craniofacial research
2024

Anomalous venous collaterals in Apert and Crouzon syndromes and their relationship to ventricle size and increased intracranial pressure.

Journal of neurosurgery. Pediatrics
2024

Reducing the risk of unfavourable fractures in Le Fort III osteotomy via a navigation-guided technique.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2024

Ocular manifestations and treatment progress of Crouzon syndrome.

International ophthalmology
2025

Using a Disentangled Neural Network to Objectively Assess the Outcomes of Midfacial Surgery in Syndromic Craniosynostosis.

Plastic and reconstructive surgery
2024

Optic canal stenosis in Crouzon syndrome: a case report and literature review.

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2024

New CRISPR/Cas9-based Fgfr2C361Y/+ mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.

Journal of molecular medicine (Berlin, Germany)
2024

Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis.

Journal of anatomy
2024

Optic nerve elongation during fronto-facial surgery for Crouzon syndrome: 3D quantification and clinical implications.

Journal of neurosurgery. Pediatrics
2024

Radiological Diagnosis of Crouzon Syndrome: A Case Study.

Cureus
2024

Unexpected massive bleeding during the modified LeFort III advancement surgery for Crouzon syndrome: A case report.

Clinical case reports
2024

Adenoidectomy in a child with Crouzon syndrome complicated with severe obstructive sleep apnea: Case report and review of literature.

Medicine
2024

An Adult Case of Crouzon Syndrome: Diagnostic Features and Treatment Modalities.

Cureus
2024

Three-dimensional quantification of soft tissue changes and its relationship to skeletal changes after Le Fort III, monobloc, and facial bipartition in syndromic craniosynostosis.

International journal of oral and maxillofacial surgery
2024

Construction of a Lentiviral Vector for Fgfr2 Overexpression and its Impact on the Biological Behavior of Cranial Suture Mesenchymal Stem Cells.

The Journal of craniofacial surgery
2024

Volumetric segmentation in the context of posterior fossa-related pathologies: a systematic review.

Neurosurgical review
2024

Skeletal changes after midface surgery in patients with craniofacial deformities: a three-dimensional quantification method.

International journal of oral and maxillofacial surgery
2025

Thirty-Year Experience Treating Syndromic Craniosynostosis: Long-Term Outcomes following Cranial Expansions.

Plastic and reconstructive surgery
2025

Alterations in Sphenoid Anatomy in Craniosynostosis: Implications for Fronto-Orbital Advancement.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.

The Journal of craniofacial surgery
2024

Dynamic Morphological Growth Trajectory of Crouzon Population: A Geometric Morphometric Analysis.

The Journal of craniofacial surgery
2025

Dosage-dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses.

Anatomical record (Hoboken, N.J. : 2007)
2024

Association of cranial base suture/synchondrosis fusion with severity of increased intracranial pressure in Crouzon syndrome.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2024

Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Pediatric research
2024

Biometry challenges in the longest eyes we have encountered to date.

American journal of ophthalmology case reports
2024

Correlation analysis of airway-facial phenotype in Crouzon syndrome by geometric morphometrics: A promising method for non-radiation airway evaluation.

Orthodontics &amp; craniofacial research
2023

Syndromic Craniosynostosis: A Comprehensive Review.

Cureus
2024

The influence of orbital architecture on strabismus in craniosynostosis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2023

A unique presentation of Crouzon-like syndrome: Complex craniosynostosis in the absence of genetic mutations or familial predisposition - A case report.

Surgical neurology international
2023

Crouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency.

Plastic and reconstructive surgery. Global open
2023

Plea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging.

European journal of obstetrics, gynecology, and reproductive biology
2023

Progressive myelinated retinal nerve fibers in a 10-year-old boy with Crouzon syndrome after craniofacial surgery.

American journal of ophthalmology case reports
2023

Crouzon syndrome with acanthosis nigricans: a case report and literature review.

Dermatology reports
2023

[Acquired form of Chiari 1.5 malformation in Crouzon syndrome (dysostosis craniofacialis)].

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2023

The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4.

Mammalian genome : official journal of the International Mammalian Genome Society
2023

An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

Pediatric hematology and oncology
2023

Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Long-term follow-up of a patient diagnosed with Crouzon syndrome who underwent Le Fort I and III distraction osteogenesis using a rigid external distractor system.

The Angle orthodontist
2023

Mysterious Bilateral Foot Pain in a Child With Crouzon Syndrome.

Cureus
2023

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Journal of sleep research
2023

Posterior Calvarial Augmentation for Syndromic Multi-Sutural Craniosynostosis: Crouzon Syndrome.

Neurology India
2023

Comparison of Internal and External Distraction in Frontofacial Monobloc Advancement: A Three-Dimensional Quantification.

Plastic and reconstructive surgery
2021

Inhalational Induction: A Safe Anaesthetic Management in a Patient with Crouzon Syndrome.

Romanian journal of anaesthesia and intensive care
2023

Cranial Base Reconstruction and Secondary Frontal Advancement for Meningoencephalocele Following LeFort III Osteotomy in a Patient with Crouzon Syndrome: Case Report.

Archives of plastic surgery
2023

Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report.

Journal of medical case reports
2023

Two-Center Review of Posterior Vault Expansion following a Staged or Expectant Treatment of Crouzon and Apert Craniosynostosis.

Plastic and reconstructive surgery
2024

Crouzon syndrome with kleeblattschädel skull.

Acta neurologica Belgica
2023

Three-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis.

International journal of dentistry
2022

Bilateral ESP block: Savior in patient with Crouzon syndrome.

Journal of anaesthesiology, clinical pharmacology
2023

A Case of Crouzon's Syndrome with a True Human Tail.

Journal of plastic and reconstructive surgery
2022

A Case Report on Copper Beaten Skull Appearance: A Forgotten Entity.

Cureus
2023

Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.

Journal of anatomy
2022

Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.

DNA and cell biology
2022

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.

Medicine
2022

Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report.

Journal of medical case reports
2022

FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome.

Cells
2022

An Elderly Patient With Crouzon Syndrome Treated With Monobloc Distraction.

The Journal of craniofacial surgery
2022

The Effect of Yes-Associated Protein on the Interaction Between the MEK/Extracellular Signal-Regulated Kinase and Hippo Pathways in Osteoblasts Co-Cultured With Fibroblast Growth Factor Receptor 2-Mutated Dura Cells.

The Journal of craniofacial surgery
2022

Behavioral, Learning Skills, and Visual Improvement in Crouzon Syndrome Patient Following Late Posterior Vault Distraction Osteogenesis.

The Journal of craniofacial surgery
2022

The foramen magnum in scaphocephaly.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Genes
2022

Accuracy of Detecting Obstructive Sleep Apnea Using Ambulatory Sleep Studies in Patients With Syndromic Craniosynostosis.

The Journal of craniofacial surgery
2022

Crouzon syndrome in a fraternal twin: A case report and review of the literature.

World journal of clinical cases
2022

Crouzon syndrome and the eye: An overview.

Indian journal of ophthalmology
2022

Orthognathic Surgery in Patients with Syndromic Craniosynostosis.

Oral and maxillofacial surgery clinics of North America
2022

Subcranial Midface Advancement in Patients with Syndromic Craniosynostosis.

Oral and maxillofacial surgery clinics of North America
2022

[Dislocation of the globe in Crouzon syndrome: A rare complication].

Journal francais d'ophtalmologie
2022

Frontofacial Reconstruction Technique Modification With Preservation of Blood Supply to the Monobloc Segment.

The Journal of craniofacial surgery
2022

A dysmorphic mouse model reveals developmental interactions of chondrocranium and dermatocranium.

eLife
2022

Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.

Scientific reports
2022

Midface advancement in an adult patient with Crouzon syndrome: Modified LeFort III + LeFort I osteotomy accompanied by genioplasty and nasal dorsum augmentation.

Dental research journal
2022

Meckel's Cartilage in Mandibular Development and Dysmorphogenesis.

Frontiers in genetics
2023

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

A rare case of atlantoaxial rotatory fixation after posterior calvarial vault expansion surgery in a Crouzon patient.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

[Perioperative management and complication control of Le Fort Ⅲ osteotomy in children with syndromic craniosynostosis].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2022

Three-dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome.

Congenital anomalies
2022

Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.

Bone reports
2022

Crouzon Syndrome Anatomy, Usefulness of Vestibular Orientation.

The Journal of craniofacial surgery
2022

Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation.

Plastic and reconstructive surgery
2022

Posterior Vault Distraction Outcomes in Patients With Severe Crouzon Syndrome Resulting from Ser347Cys and Ser354Cys Mutations.

The Journal of craniofacial surgery
2022

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.

The Journal of experimental medicine
2022

Computed tomography findings of Crouzon syndrome: A case report.

Radiology case reports
2022

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.

Molecular genetics &amp; genomic medicine
2022

The diagnosis and treatment of infant Crouzon syndrome with literature review.

Asian journal of surgery
2022

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.

Journal of clinical medicine
2023

Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

The Course and Interaction of Ventriculomegaly and Cerebellar Tonsillar Herniation in Crouzon Syndrome over Time.

Plastic and reconstructive surgery. Global open
2022

Orbitofacial morphology changes with different suture synostoses in Crouzon syndrome.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2023

Morphology of the Occipital Bones and Foramen Magnum Resulting From Premature Minor Suture Fusion in Crouzon Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

An Auxiliary Cranioparietal Anchorage System to Improve the Stability of the Rigid External Distraction Device in Children With Crouzon Syndrome.

The Journal of craniofacial surgery
2021

Reducing the Burden of Care: Multidisciplinary Management of Late-Manifested Crouzon Syndrome-A Case Report.

Children (Basel, Switzerland)
2022

Algorithm to the treatment of Crouzon syndrome.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2021

Progressive Myelinated Retinal Nerve Fibers in Children With Craniosynostosis.

Journal of pediatric ophthalmology and strabismus
2022

Does the association between abnormal anatomy of the skull base and cerebellar tonsillar position also exist in syndromic craniosynostosis?

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2021

Dura cells in the etiopathogenesis of Crouzon syndrome: the effects of FGFR2 mutations in the dura cells on the proliferation of osteoblasts through the hippo/YAP mediated transcriptional regulation pathway.

American journal of translational research
2021

An Unoperated Crouzon Family Treated with Monobloc Distraction: Challenges and Lessons.

Plastic and reconstructive surgery. Global open
2022

Lipofilling of the lower eyelids: A craniofacial tool to postpone the facial advancement in craniofacial syndromes.

Journal of stomatology, oral and maxillofacial surgery
2022

Differential diagnosis of syndromic craniosynostosis: a case series.

Archives of gynecology and obstetrics
2021

Perioperative airway complications in infants and children with Crouzon and Pfeiffer syndromes: A single-center experience.

Paediatric anaesthesia
2021

Crouzon syndrome with strabismus.

Asian journal of surgery
2021

A Case of Crouzon Syndrome.

The Journal of the Association of Physicians of India
2021

Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience.

Acta neurochirurgica
2022

Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome.

The Journal of craniofacial surgery
2021

Dental phenotype in Crouzon syndrome: A controlled radiographic study in 22 patients.

Archives of oral biology
2022

Hypercementosis development in a patient with Crouzon syndrome.

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
2021

Clinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans.

Journal of neurosurgery. Pediatrics
2021

Optic canal characteristics in pediatric syndromic craniosynostosis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2021

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant.

Case reports in endocrinology
2022

Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2021

Respective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development.

Plastic and reconstructive surgery
2022

Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.

The Laryngoscope
2022

Comprehensive management of Crouzon syndrome: A case report with three-year follow-up.

Journal of orthodontics
2021

The need to belong: Subjective experiences of living with craniofacial conditions and undergoing appearance-altering surgery.

Body image
2021

Treating Syndromic Craniosynostosis with Monobloc Facial Bipartition and Internal Distractor Devices: Destigmatizing the Syndromic Face.

Clinics in plastic surgery
2021

Genetic and congenital disorders in pre-Hispanic Moche pottery.

American journal of medical genetics. Part C, Seminars in medical genetics
2021

Lefort II distraction with zygomatic repositioning versus Lefort III distraction: A comparison of surgical outcomes and complications.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2021

Crouzon syndrome: posterior fossa volume studies in vestibular orientation.

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

Syndrome-related outcomes following posterior vault distraction osteogenesis.

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

Craniosynostosis: Neonatal Perspectives.

NeoReviews
2021

Disappointing results of spring-assisted cranial vault expansion in patients with Crouzon syndrome presenting with sagittal synostosis.

Neurosurgical focus
2021

Hydrocephalus treatment in patients with craniosynostosis: an analysis from the Hydrocephalus Clinical Research Network prospective registry.

Neurosurgical focus
2021

Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report.

Medicine
2021

Severe chemosis and treatment following fronto-orbital advancement surgery for Crouzon syndrome: A case report.

Medicine
2021

Characteristics of the Sphenoid Bone in Crouzon Syndrome.

The Journal of craniofacial surgery
2021

Virtual planning in Le Fort III distraction osteogenesis: A case series.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2021

Intracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly.

Annals of plastic surgery
2021

Racial disparity in orbital morphology and spatial relations in unoperated Crouzon patients.

The British journal of oral &amp; maxillofacial surgery
2021

Commentary on "Airway Growth in Preoperative Patients with Crouzon Syndrome" by Lu et al.

Facial plastic surgery &amp; aesthetic medicine
2021

Airway Growth in Preoperative Patients with Crouzon Syndrome.

Facial plastic surgery &amp; aesthetic medicine
2021

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

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

Characterization of dental pulp stem cells isolated from a patient diagnosed with Crouzon syndrome.

Journal of cellular physiology
2021

Growth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis.

International journal of oral and maxillofacial surgery
2021

Cervical Spinal Cord Compression and Sleep-Disordered Breathing in Syndromic Craniosynostosis.

AJNR. American journal of neuroradiology
2021

Surgical Management of Sinus Pericranii With Crouzon Syndrome.

The Journal of craniofacial surgery
2021

A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.

The Journal of craniofacial surgery
2021

Progressive Postnatal Pansynostosis in Crouzon Syndrome.

The Journal of craniofacial surgery
2021

Crouzon Syndrome and Acanthosis Nigricans With Fibrous Dysplasia of the Maxilla: An Unreported Suggested Triad.

The Journal of craniofacial surgery
2020

Pitfalls and Promise of 3-dimensional Image Comparison for Craniofacial Surgical Assessment.

Plastic and reconstructive surgery. Global open
2020

Racial Disparity Between Asian and Caucasian Crouzon Syndrome in Skull Morphology.

The Journal of craniofacial surgery
2021

Assessment of long-term quality of life in patients with syndromic craniosynostosis.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2021

Cerebrospinal Fluid Leak After Septoplasty in Crouzon Syndrome.

The Journal of craniofacial surgery
2020

Genetic background dependent modifiers of craniosynostosis severity.

Journal of structural biology
2021

Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome.

The Journal of craniofacial surgery
2021

Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.

The Laryngoscope
2021

Sphenoid Bone Structure and Its Influence on the Cranium in Syndromic Versus Nonsyndromic Craniosynostosis.

The Journal of craniofacial surgery
2020

Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain-of-function A391E mutation in FGFR3 gene.

The Journal of dermatology
2020

[Advances in research on Crouzon syndrome and related ophthalmic complications].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2020

What Is the Difference in Cranial Base Morphology in Isolated and Syndromic Bicoronal Synostosis?

Plastic and reconstructive surgery
2020

Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.

Bone
2020

Posterior Distraction Using Springs in Syndromic and Multisuture Craniosynostosis: Improving the Technique.

The Journal of craniofacial surgery
2021

Circummaxillary Sutures in Patients With Apert, Crouzon, and Pfeiffer Syndromes Compared to Nonsyndromic Children: Growth, Orthodontic, and Surgical Implications.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

Alterations of upper airway volume caused by Le Fort III osteodistraction in children.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2020

Foreign Body Reaction to Poly-D-L-Lactic Acid Resorbable Plates Used in Craniofacial Surgery.

The Journal of craniofacial surgery
2020

Crouzon Syndrome in a Ten-week-old Infant: A Case Report.

Saudi journal of medicine &amp; medical sciences
2020

A novel therapeutic hypothesis for craniosynostosis syndromes: Clover to clever.

Medical hypotheses
2020

Viral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome.

PloS one
2020

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

Plastic and reconstructive surgery
2020

Successful management of anesthesia complications in a child with Crouzon syndrome.

Der Anaesthesist
2020

Racial disparity of Crouzon syndrome in maxilla and mandible.

International journal of oral and maxillofacial surgery
2020

Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature.

Case reports in dentistry
2020

Commentary: Anomalous extraocular muscles in Crouzon syndrome with V-pattern exotropia.

Indian journal of ophthalmology
2020

Anomalous extraocular muscles in Crouzon syndrome with V-pattern exotropia.

Indian journal of ophthalmology
2020

An Infant with Crouzon Syndrome Presenting with Reversible Chronic Airway Obstruction.

Anesthesiology
2021

Craniofacial, oral, and cervical morphological characteristics in Japanese patients with Apert syndrome or Crouzon syndrome.

European journal of orthodontics
2020

An Overview of Craniosynostosis Craniofacial Syndromes for Combined Orthodontic and Surgical Management.

Oral and maxillofacial surgery clinics of North America
Ver todos os 358 no EuropePMC

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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. Innovative Pediatric Simulator for Difficult Airway Management Training.
    IEEE journal of translational engineering in health and medicine· 2026· PMID 41970940mais citado
  2. En-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.
    Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2026· PMID 41812278mais citado
  3. [Clinical analysis of pregnancy outcomes and prognosis for fetal ventriculomegaly].
    Zhonghua fu chan ke za zhi· 2026· PMID 41765650mais citado
  4. Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
    Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2026· PMID 41747663mais citado
  5. Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.
    Radiology case reports· 2026· PMID 41742908mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:207(Orphanet)
  2. OMIM OMIM:123500(OMIM)
  3. MONDO:0007405(MONDO)
  4. GARD:6206(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q779250(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 Crouzon
Compêndio · Raras BR

Síndrome Crouzon

ORPHA:207 · MONDO:0007405
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant
CID-10
Q75.1 · Disostose craniofacial
CID-11
Ensaios
1 ativos
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0010273
EuropePMC
Wikidata
Wikipedia
Papers 10a
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