A Síndrome de Apert (SA) é um dos tipos mais comuns de um grupo de doenças genéticas que causam má-formações, presentes desde o nascimento. Essas condições são caracterizadas por um fechamento precoce dos ossos do crânio, um desenvolvimento menor da parte central do rosto, e anomalias ou união dos dedos das mãos e dos pés (sindactilia).
Introdução
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A Síndrome de Apert (SA) é um dos tipos mais comuns de um grupo de doenças genéticas que causam má-formações, presentes desde o nascimento. Essas condições são caracterizadas por um fechamento precoce dos ossos do crânio, um desenvolvimento menor da parte central do rosto, e anomalias ou união dos dedos das mãos e dos pés (sindactilia).
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
+ 33 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 111 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
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
Cell membraneGolgi apparatusCytoplasmic vesicleSecreted
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.
Variantes genéticas (ClinVar)
308 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
17 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Apert
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
33 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.
Apert syndrome is a rare congenital disorder characterised by craniosynostosis, syndactyly and distinct facial dysmorphisms. We found a child with Apert syndrome from an economically disadvantaged family residing in an urban slum during a routine home visit by the All India Institute of Medical Sciences Bhubaneswar Extended Health Clinic. The child presented with global developmental delay, unvaccinated status and severe malnutrition, manifesting as underweight and stunted growth. Despite being eligible for free healthcare services under the Rashtriya Bal Swasthya Karyakram, the child remained unlinked to it. Contributing factors to this delayed intervention included the family's low socio-economic status, profound lack of awareness of the condition, poor healthcare-seeking behaviour and insufficient engagement from healthcare workers. Moreover, complex psychosocial issues, such as maternal depression, parental substance abuse, limited social support and insufficient family involvement, further intensified the obstacles to the optimal growth and development of the child, highlighting the multifaceted factors that shape health outcomes in vulnerable populations.
Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.
Fibroblast growth factor 2 (FGF2) is known to play a role in skeletal muscle development and growth. We examined two populations of myogenic precursor cells for their responses to FGF2 in vitro using both extraocular and limb skeletal muscle. Fluorescence-activated cell sorting (FACS) was used to isolate two different populations of myogenic precursor cells, the EECD34 cells (positive for CD34, and negative for Sca1, CD31, and CD45) and PAX7-positive cells, from tibialis anterior and extraocular muscles of mice. These cells were cultured and treated with either proliferation or differentiation media in the absence or the presence of FGF2, followed by assays to determine the effects on proliferation and differentiation. EECD34 cells and PAX7-positive cells from both muscles responded to FGF2 with significantly increased proliferation. Both myogenic precursor cell populations from each muscle type showed increased percentage of desmin-positive mononucleated cells, but decreased rates of fusion into multinucleated myotubes in the presence of FGF2 in this in vitro system relative to control cells. FGF2 has pleiotropic effects on skeletal muscles. Contrary to the literature, FGF2 did not inhibit differentiation, but did appear to decrease fusion into multinucleated myofibers in vitro. Examination of immunostaining for myomerger in differentiating PAX7-positive cells in the presence or absence of FGF2 demonstrated a significant reduction of expression in the presence of elevated FGF2 levels. These results provide a potential mechanism for reduction in myofiber number and size in the extraocular muscles in individuals with Apert syndrome, where FGF receptor 2 mutations maintain the receptor in an activated state resulting in significantly reduced myofiber size.
The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
Diseases affecting the craniofacial skeleton are normally associated with disturbances in the regulation of cellular differentiation, the development of bone structures, and changes in bone density and ossification. Thus, the objective of this integrative review is to evaluate the published scientific literature from the last 8 years concerning the impact of genetics on some craniofacial dysplasias. Our aim covers the identification of oral cavity alterations to those dysplasias, through the most common orofacial manifestations. Three dysplasias were selected to be part of this integrative review: cleidocranial dysplasia, ectodermal dysplasia and Apert syndrome. For this purpose, a bibliographic search was performed in the PubMed, ScienceDirect, Web of Science and Google Scholar databases with several keywords combined with each other. The research question of this review was as follows: "What is the impact of genetic factors on the development of craniofacial dysplasias and associated oral malformations?". After selecting the articles through the application of inclusion and exclusion criteria, 11 articles were selected for this review. Genetics plays a crucial role in craniofacial dysplasias and subsequent oral malformations. The main conclusion was that mutations in different genes can lead to identical phenotypes, while mutations in the same gene can present slight phenotypic differences depending on where they occur. In the future, it would be important to conduct studies with larger samples and control groups that include genetic testing to allow for a more comprehensive study on the impact of genetics on craniofacial dysplasias.
Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
Syndromic craniosynostosis, such as Apert and Crouzon syndromes, involve premature fusion of cranial sutures, leading to cranial deformities and potential neurological complications. Posterior cranial vault expansion (PCVE) is commonly used to address intracranial volume (ICV) anomalies in these cases, especially in the posterior fossa region. However, the morphological variation of this region between normal, Apert and Crouzon individuals remains understudied. This study aimed to carry out a detailed morphological analysis of the posterior fossa between the aforementioned groups before and after PCVE. Retrospective computed tomography (CT) data from 28 children with Apert (n = 13) and Crouzon (n = 15) syndromes, alongside 51 age-matched controls, were analyzed. Intracranial and posterior fossa volumes (ICV and PFV) were computed pre- and post-operatively. Morphometric shape analyses were conducted for posterior fossa and intracranial cavity using principal component analysis (PCA). Pre-operatively, Apert syndrome patients exhibited larger PFV and ICV compared to Crouzon syndrome patients and controls (e.g., p = 0.009 for pre-operative Apert vs. controls), while Crouzon syndrome patients showed more variability in PFV and ICV. Post-operatively, Apert patients demonstrated significant increases in both PFV and PFV/ICV ratios (e.g., post-operative vs. pre-operative PFV: p < 0.001). In contrast, Crouzon patients exhibited limited improvements in PFV, with PFV/ICV ratios often declining post-surgery (p = 0.890; median post-operative-pre-operative difference = -0.095). PCA revealed distinct intracranial and posterior fossa shape differences between Apert and Crouzon patients. While PCVE increased posterior fossa volume, it did not appear to improve posterior fossa shape in either Apert or Crouzon patients. Future studies are required to address the limitations of small sample sizes, lack of post-operative data on Chiari anomaly, and surgical variability to further explore possible correlations between the aforementioned parameters.
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
Craniosynostosis (CS) is the second most common craniofacial birth defect after orofacial clefts. Genetic counseling is essential for reproductive planning in affected families. Nine fetal CS cases-six Apert syndrome (AS) and three Pfeiffer syndrome (PS)-with established genetic causes were retrospectively analyzed for clinical, radiological, and molecular features. Mean gestational age at first examination was 26.2 weeks. Four AS and two PS cases were diagnosed during the prenatal stage by ultrasonography (USG), whereas two AS and one PS cases were identified during postmortem. Common prenatal findings included polyhydramnios, high flat forehead, and syndactyly. Two of the three cases diagnosed at the postmortem stage had multiple congenital anomalies (MCA), while in the third, CS was suspected due to frontal bossing and proptosis despite the absence of classic signs. All cases carried pathogenic FGFR2 variants. Proptosis, frontal bossing, and trigonocephaly are key prenatal indicators of CS, but their absence-especially with systemic anomalies-can challenge diagnosis. In cases with MCA, CS should be suspected even if classic signs are absent, particularly when syndactyly accompanies other complex abnormalities. Postmortem evaluation and molecular genetic testing are essential for definitive diagnosis, especially when clinical features are ambiguous.
Publicações recentes
ERK-Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells.
[Ocular manifestations of Apert syndrome: a case report].
Health-Related Quality of Life Outcomes in Pediatric Patients With Apert Syndrome.
Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures-Case Report.
Digital Planning and Patient-Specific Implants Facilitate Accurate Conventional Sub-Cranial Le Fort III Advancement.
📚 EuropePMC509 artigos no totalmostrando 195
Diagnosing fetal apert syndrome: a case study on prenatal diagnosis and genetic insights.
Quantitative imaging in medicine and surgeryNavigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.
BMJ case reportsEffects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.
PloS oneThe Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
GenesMorphological 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 SurgeryPrenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
Prenatal diagnosisTracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
International journal of pediatric otorhinolaryngologyA Case of Complex Syndactyly with Apert Syndrome Treated with a Two-stage Interdigital Reconstruction Using Adipose Flaps.
Journal of plastic and reconstructive surgeryThe APERT Severity Scale: A Quantitative Tool for Risk Stratification in Apert Syndrome.
Plastic and reconstructive surgeryFrom FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.
Frontiers in pediatricsPositive Impact of Frontofacial Advancement on Intracranial Volumes in Patients With Syndromic Craniofaciosynostosis.
Plastic and reconstructive surgery. Global openPrevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis.
Orthodontics & craniofacial researchHotspots of human mutation point to clonal expansions in spermatogonia.
NatureOptimising anaesthetic management during fronto-orbital advancement in an infant with Apert syndrome.
BMJ case reportsHuman-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.
Journal of anatomyNot Apert Syndrome: A Critique of a Recent Case Report by Pan and Yang.
American journal of medical genetics. Part APilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.
Dermatopathology (Basel, Switzerland)Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.
American journal of medical genetics. Part A3D Printing Today, AI Tomorrow: Rethinking Apert Syndrome Surgery in Low-Resource Settings.
Healthcare (Basel, Switzerland)Prenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases.
Translational pediatricsBrazilian Association of Apert Syndrome: Uniting Efforts for a National Comprehensive Care.
The Journal of craniofacial surgeryDifferential 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 SurgeryThe influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis.
Journal of anatomyIdentification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.
American journal of medical genetics. Part ACranial Bone Changes Associated With Intracranial Hypertension in Apert Syndrome: Insights for Early Surgical Intervention.
Plastic and reconstructive surgery. Global openFacial 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 SurgeryThe Revolutionary Role of Ultrasound in Anaesthetic Management of Apert Syndrome: A Report of Two Cases.
CureusInsight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.
Molecular neurobiologyFGFR2 residence in primary cilia is necessary for epithelial cell signaling.
The Journal of cell biologyRespiratory and craniofacial management in children with Apert syndrome.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryUpper Airway Obstruction Trends in Craniofacial Syndromes: A Comparative Study.
The Journal of craniofacial surgeryClinical Nasal Deviation Following Midface Advancement in Patients With Syndromic Craniosynostosis.
The Journal of craniofacial surgeryA Hybrid Technique Using Video Laryngoscope-assisted Flexible Bronchoscopy to Facilitate Endotracheal Intubation in Children with Anticipated Difficult Airway: A Case Series.
Turkish journal of anaesthesiology and reanimationInvestigation of Cranial Bone Changes Indicative of Increased Intracranial Pressure in Diverse Phenotypes of Craniosynostosis.
Plastic and reconstructive surgery. Global openThe 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 Surgery3D imaging reveals changes in the neurovascular architecture of the murine calvarium with aging.
Bone researchPerioperative Airway Management for Midface Surgery in Children With Syndromic Craniosynostosis; a Single Center Experience With Immediate Extubation.
Paediatric anaesthesiaIntraoperative Skull Fracture During Halo Application in Subcranial Le Fort III: Strategies for Managing a Rare Complication.
The Journal of craniofacial surgeryApert syndrome in a 3-month-old male infant.
Asian journal of surgeryAnomalous venous collaterals in Apert and Crouzon syndromes and their relationship to ventricle size and increased intracranial pressure.
Journal of neurosurgery. PediatricsPosterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases.
JBJS case connectorApert syndrome and obstructive sleep apnea: Timing for midface surgery.
Cranio : the journal of craniomandibular practiceLong-term photogrammetric outcomes of midface advancement in Apert syndrome: are we nearing normal?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUsing a Disentangled Neural Network to Objectively Assess the Outcomes of Midfacial Surgery in Syndromic Craniosynostosis.
Plastic and reconstructive surgeryApert syndrome in a newborn with premature fusion of skull bones, a rostral nose, and cleft palate: A case report.
Clinical case reportsA longitudinal study of the role of fingers in the development of early number and arithmetic skills in children with Apert syndrome.
Journal of anatomyContemporary Management of the Upper Limb in Apert Syndrome: A Review.
Plastic and reconstructive surgery. Global openPrenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report.
International journal of surgery case reportsResection of Fourth-to-Fifth Metacarpal Synostosis and Fascial Interposition for Creation of a Functional Grip/Pinch in the Apert Hand.
Plastic and reconstructive surgeryEmphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.
Diagnostics (Basel, Switzerland)Apert syndrome: craniofacial challenges and clinical implications.
BMJ case reportsEarly Cranioplasty in an Apert's Syndrome Infant With Occipital Encephalocele.
The Journal of craniofacial surgeryLong-Term Follow-Up of Apert Syndrome Following Mid-Face Advancement: More Than 3 Decades Later.
The Journal of craniofacial surgeryWebplasty using an external fixator for complex syndactyly caused by Apert syndrome.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationHumanitarian Facial Recognition for Rare Craniofacial Malformations.
Plastic and reconstructive surgery. Global openThree-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 surgeryLacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.
Ophthalmic plastic and reconstructive surgeryApert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySuccessful reverse total shoulder replacement in a patient with Apert syndrome.
Shoulder & elbowApical expansion of calvarial osteoblasts and suture patency is dependent on fibronectin cues.
Development (Cambridge, England)Skeletal changes after midface surgery in patients with craniofacial deformities: a three-dimensional quantification method.
International journal of oral and maxillofacial surgeryThirty-Year Experience Treating Syndromic Craniosynostosis: Long-Term Outcomes following Cranial Expansions.
Plastic and reconstructive surgeryAlterations in Sphenoid Anatomy in Craniosynostosis: Implications for Fronto-Orbital Advancement.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationVirtual Reality and Mixed Reality-Assisted Endoscopic DCR in Extremely Complex Lacrimal Obstructions.
The LaryngoscopeThe Kaleidoscope of Midface Management in Apert Syndrome: A 23-Year Single-Institution Experience.
Plastic and reconstructive surgeryImpact of Anterior and Posterior Vault Distraction Osteogenesis (A-PVDO) and 3D-Printed Positioning/Shaping Templates in Apert Syndrome: A Case Series Study.
The Journal of craniofacial surgeryCoexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.
Molecular syndromologyCraniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Pediatric researchDelayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome.
Plastic and reconstructive surgery. Global openSer252Trp mutation in fibroblast growth factor receptor 2 promotes branching morphogenesis in mouse salivary glands.
Journal of oral biosciencesSyndromic Craniosynostosis: A Comprehensive Review.
CureusThe influence of orbital architecture on strabismus in craniosynostosis.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusUnraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.
CureusClinical and operative risk factors for complications after Apert hand syndactyly reconstruction.
The Journal of hand surgery, European volumeDe novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.
Personalized medicineA Complex Case of Clino-Syndactyly with Fourth Metacarpal Aplasia.
Life (Basel, Switzerland)Sensitivity, Specificity, and Cutoff Identifying Optic Atrophy by Macular Ganglion Cell Layer Volume in Syndromic Craniosynostosis.
OphthalmologyOutcome of Bilateral Hand Reconstruction in a Child Presenting Late With Apert Syndrome: A Case Report and Literature Review.
CureusFacial Fat Graft Injection Reduces Asymmetry and Improves Forehead Contour in Early Infancy Apert Syndrome Patients.
The Journal of craniofacial surgeryGenetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.
The Journal of craniofacial surgeryOutcomes of Apert Syndrome Hand Reconstruction With Tilapia Skin: A Prospective Study.
The Journal of craniofacial surgeryMale reproductive ageing: a radical road to ruin.
Human reproduction (Oxford, England)Two-stage surgical treatment for medially angulated great toes in Apert feet by wedged corrective osteotomy with distraction of the inter-metatarsal space: A case report.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationCleft Palate in Apert Syndrome: A Descriptive Study of Incidence and Surgical Outcome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationApert Syndrome - caveats of squint management.
Romanian journal of ophthalmologyApert syndrome: a rare clinical image.
The Pan African medical journalExosome-mediated small interfering RNA delivery inhibits aberrant osteoblast differentiation in Apert syndrome model mice.
Archives of oral biologyIntroduction of Spring-Assisted Cranioplasty for Bicoronal Synotosis in India: Description of First Case and Our Learning Experience.
Neurology IndiaApert Syndrome: Selection Rationale for Midface Advancement Technique.
Advances and technical standards in neurosurgeryOrbital and Eyelid Characteristics, Strabismus, and Intracranial Pressure Control in Apert Children Treated by Endoscopic Strip Craniectomy versus Fronto-Orbital Advancement.
Plastic and reconstructive surgery. Global openEvaluation of polysomnography findings in children with genetic skeletal disorders.
Journal of sleep researchPosterior Cranial Distraction in Craniosynostosis: A Systematic Review of the Literature.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationClinical-Epidemiological Study of a Cohort of 35 Patients with Craniosynostosis.
MaedicaClinical manifestations of Apert syndrome.
Clinical case reportsApert Syndrome Type III Hand: Prevalence and Outcomes.
The Journal of craniofacial surgeryDoes the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?
The Journal of craniofacial surgeryDiscussion of "Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?".
The Journal of craniofacial surgeryThree-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis.
International journal of dentistryImpact of paternal age on assisted reproductive technology outcomes and offspring health: a systematic review.
AndrologyPersistent falcine sinus in the newborn: 3 case reports of associated anomalies.
Radiology case reportsSynchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.
Journal of anatomyPreprocedural Electrophysiological Monitoring in Craniofacial Surgery for a Patient with Chiari Malformation.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationWhole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
MedicineLeft Ophthalmic Segment Internal Carotid Artery Aneurysm Treated with Flow Diversion in a Child with Apert Syndrome: Technical Note.
Pediatric neurosurgeryCleft Palate in Apert Syndrome.
Journal of developmental biologyBacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia.
Ethiopian journal of health sciencesOrthognathic Surgery in Patients with Syndromic Craniosynostosis.
Oral and maxillofacial surgery clinics of North AmericaSubcranial Midface Advancement in Patients with Syndromic Craniosynostosis.
Oral and maxillofacial surgery clinics of North AmericaFrontofacial Reconstruction Technique Modification With Preservation of Blood Supply to the Monobloc Segment.
The Journal of craniofacial surgeryRuptured Sinus of Valsalva Aneurysm in Apert Syndrome: Case report.
Journal of community hospital internal medicine perspectivesCranial Morphology Associated With Syndromic Craniosynostosis: A Potential Detection of Abnormality in Patient's Cranial Growth Using Angular Statistics.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationProcesses and patterns: Insights on cranial covariation from an Apert syndrome mouse model.
Developmental dynamics : an official publication of the American Association of AnatomistsApert Syndrome: Dental management considerations and objectives.
Journal of oral biology and craniofacial researchRole of sperm DNA damage in creating de-novo mutations in human offspring: the 'post-meiotic oocyte collusion' hypothesis.
Reproductive biomedicine onlineThree-dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome.
Congenital anomaliesOpen-wedge osteotomy for thumb radial angulation in Apert syndrome using a bone-graft substitute.
Journal of pediatric orthopedics. Part BVariations in Paranasal Sinus Anatomy in Children With Apert Syndrome: A Radiological Analysis.
The Journal of craniofacial surgeryFrontofacial Monobloc Advancement With Internal Distraction: Surgical Technique and Osteotomy Guide.
Operative neurosurgery (Hagerstown, Md.)Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.
Scientific reportsGrowth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Bone reportsEndoscopic strip craniectomy with orthotic helmeting for safe improvement of head growth in children with Apert syndrome.
Journal of neurosurgery. PediatricsZygomatic repositioning and Le Fort II distraction with intraoral devices in Apert syndrome: A case report.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryInfluence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation.
Plastic and reconstructive surgeryInner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.
The Journal of craniofacial surgeryFronto-orbital Advancement and Anterior Cranial Vault Reconstruction.
Atlas of the oral and maxillofacial surgery clinics of North AmericaApert syndrome: an informative long-term dentofacial outcome.
BMJ case reportsPrevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.
Journal of clinical medicineLong-term Management of a Patient with Apert Syndrome.
The journal of contemporary dental practiceThe potential role for phage therapy for genetic modification of cutaneous diseases.
Clinics in dermatologyDistraction Lengthening of the Apert Thumb.
Plastic and reconstructive surgeryCraniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExcessive osteoclast activation by osteoblast paracrine factor RANKL is a major cause of the abnormal long bone phenotype in Apert syndrome model mice.
Journal of cellular physiologyPsychological Adjustment in Apert Syndrome: Parent and Young Person Perspectives.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAcrocephalosyndactyly Type 1 (Apert Syndrome): A Case Report.
Indian dermatology online journalAcne Syndromes and Mosaicism.
BiomedicinesDoes the association between abnormal anatomy of the skull base and cerebellar tonsillar position also exist in syndromic craniosynostosis?
Journal of plastic, reconstructive & aesthetic surgery : JPRASCongenital musculoskeletal anomalies - key radiographic findings.
Pediatric radiologyTripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaApert Syndrome: An Insight Into Dentofacial Features.
CureusLipofilling of the lower eyelids: A craniofacial tool to postpone the facial advancement in craniofacial syndromes.
Journal of stomatology, oral and maxillofacial surgeryDifferential diagnosis of syndromic craniosynostosis: a case series.
Archives of gynecology and obstetrics[Apert syndrome or acrocephalosyndactilia type I].
Revue medicale de LiegeManagement of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience.
Acta neurochirurgicaDoes different cranial suture synostosis influence orbit volume and morphology in Apert syndrome?
International journal of oral and maxillofacial surgeryHearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.
The Journal of craniofacial surgeryEffect of Fibroblast Growth Factor 2 on Extraocular Muscle Structure and Function.
Investigative ophthalmology & visual scienceApert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement.
The Journal of craniofacial surgeryLocal Soft Tissue and Bone Displacements Following Midfacial Bipartition Distraction in Apert Syndrome - Quantification Using a Semi-Automated Method.
The Journal of craniofacial surgeryOptic canal characteristics in pediatric syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryRespective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development.
Plastic and reconstructive surgeryComplex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
The LaryngoscopeMorphological Basis for Airway Surgical Intervention in Apert Syndrome.
Annals of plastic surgeryTreating Syndromic Craniosynostosis with Monobloc Facial Bipartition and Internal Distractor Devices: Destigmatizing the Syndromic Face.
Clinics in plastic surgeryMonobloc Distraction and Facial Bipartition Distraction with External Devices.
Clinics in plastic surgeryLe Fort II Distraction with Simultaneous Zygomatic Repositioning.
Clinics in plastic surgeryTeaching healthcare professionals to see.
American journal of medical genetics. Part C, Seminars in medical geneticsLefort 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 SurgeryA pediatric case of transient periictal MRI abnormalities after repeated seizures.
Brain & developmentPrevalence of cleft lip and palate and associated factors in Brazil's Midwest: a single-center study.
Brazilian oral researchSyndrome-related outcomes following posterior vault distraction osteogenesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySeptal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome.
Scientific reportsCraniosynostosis and hydrocephalus: relevance and treatment modalities.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCraniosynostosis: Neonatal Perspectives.
NeoReviewsMorphological improvement after multi-directional cranial distraction osteogenesis procedure for syndromic craniosynostosis.
Neurosurgical focus: VideoMaxillary Changes Following Facial Bipartition - A Three-Dimensional Quantification.
The Journal of craniofacial surgerySatisfying Clinical and Functional Results in 12 Apert Children Treated With Soft Tissue Distractor.
Journal of pediatric orthopedicsA Ser252Trp substitution in mouse FGFR2 results in hyperplasia of embryonic salivary gland parenchyma.
Journal of oral biosciencesSlide Tracheoplasty for Tracheal Cartilaginous Sleeve in a Patient With Apert Syndrome.
The Annals of thoracic surgeryInsights and future directions of potential genetic therapy for Apert syndrome: A systematic review.
Gene therapyIntracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly.
Annals of plastic surgeryApert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report.
World journal of clinical casesMagnitude of Horizontal Advancement is Associated With Apnea Hypopnea Index Improvement and Counter-Clockwise Maxillary Rotation After Subcranial Distraction for Syndromic Synostosis.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsLe fort II distraction osteogenesis with a hybrid system for an Apert syndrome patient: A case report.
JPRAS openIs the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome.
BMC musculoskeletal disordersApert syndrome: Cranial procedures and brain malformations in a series of patients.
Surgical neurology internationalFrom Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.
Dermatology practical & conceptualApert Hand Reconstruction: Do Partial-Thickness Skin Grafts Result in Flexion Scar Contracture?
The Journal of craniofacial surgeryCo-occurrence of interrupted aortic arch and Apert syndrome: A case report.
Pediatrics and neonatologyAssessment of long-term quality of life in patients with syndromic craniosynostosis.
Journal of plastic, reconstructive & aesthetic surgery : JPRASA novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report.
MedicineApert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis.
Journal of clinical ultrasound : JCUGenotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
The LaryngoscopeSphenoid Bone Structure and Its Influence on the Cranium in Syndromic Versus Nonsyndromic Craniosynostosis.
The Journal of craniofacial surgeryWhat Is the Difference in Cranial Base Morphology in Isolated and Syndromic Bicoronal Synostosis?
Plastic and reconstructive surgeryAberrantly activated Wnt/β-catenin pathway co-receptors LRP5 and LRP6 regulate osteoblast differentiation in the developing coronal sutures of an Apert syndrome (Fgfr2S252W/+ ) mouse model.
Developmental dynamics : an official publication of the American Association of AnatomistsHelal Metatarsal Osteotomy in Apert Foot.
Journal of pediatric orthopedicsCircummaxillary 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 AssociationSocial Experiences of Turkish Parents Raising a Child With Apert Syndrome: A Qualitative Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Procedure for Designing Custom-Made Implants for Forehead Augmentation in People Suffering from Apert Syndrome.
Journal of medical systemsAlterations 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 SurgeryThe Sins of Our Forefathers: Paternal Impacts on De Novo Mutation Rate and Development.
Annual review of geneticsMorphological Differences in the Inferior Oblique Muscles from Subjects with Over-elevation in Adduction.
Investigative ophthalmology & visual scienceEarly Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology.
Fetal and pediatric pathologySimultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.
Plastic and reconstructive surgeryManagement of Paronychia in Patients With Apert Syndrome.
Techniques in hand & upper extremity surgeryAssociações
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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.
- Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.
- Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.
- The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
- 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
- Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
- ERK-Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells.
- [Ocular manifestations of Apert syndrome: a case report].
- Health-Related Quality of Life Outcomes in Pediatric Patients With Apert Syndrome.
- Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures-Case Report.
- Digital Planning and Patient-Specific Implants Facilitate Accurate Conventional Sub-Cranial Le Fort III Advancement.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:87(Orphanet)
- OMIM OMIM:101200(OMIM)
- MONDO:0007041(MONDO)
- GARD:5833(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q618246(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
