Raras
Buscar doenças, sintomas, genes...
Síndrome Apert
ORPHA:87CID-10 · Q87.0CID-11 · LD24.G2OMIM 101200DOENÇA RARA

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).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

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).

Pesquisas ativas
1 ensaio
33 total registrados no ClinicalTrials.gov
Publicações científicas
919 artigos
Último publicado: 2026 Apr 10

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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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

🦴
Ossos e articulações
29 sintomas
😀
Face
15 sintomas
👁️
Olhos
6 sintomas
👂
Ouvidos
5 sintomas
🫃
Digestivo
5 sintomas
❤️
Coração
4 sintomas

+ 33 sintomas em outras categorias

Características mais comuns

100%prev.
HP:0003577
Frequência: 4/4
100%prev.
Sindactilia cutânea dos dedos dos pés
Frequência: 2/2
100%prev.
Sindactilia cutânea dos dedos
Frequência: 2/2
100%prev.
Palato ogival
Frequência: 2/2
100%prev.
Hálux largo
Frequência: 2/2
100%prev.
Testa proeminente
Frequência: 2/2
111sintomas
Muito frequente (22)
Frequente (41)
Ocasional (25)
Sem dados (23)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 111 características clínicas mais associadas, ordenadas por frequência.

HP:0003577
Frequência: 4/4100%
Sindactilia cutânea dos dedos dos pésCutaneous syndactyly of toes
Frequência: 2/2100%
Sindactilia cutânea dos dedosCutaneous finger syndactyly
Frequência: 2/2100%
Palato ogivalHigh palate
Frequência: 2/2100%
Hálux largoBroad hallux
Frequência: 2/2100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico919PubMed
Últimos 10 anos200publicações
Pico202143 papers
Linha do tempo
2026Hoje · 2026🧪 2003Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

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)

308 variantes patogênicas registradas no ClinVar.

🧬 FGFR2: NM_000141.5(FGFR2):c.1646A>T (p.Asn549Ile) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1064_1075delinsTATGGTTGACGA (p.Ala355_Val359delinsValTrpLeuThrIle) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1375A>T (p.Met459Leu) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1068G>C (p.Trp356Cys) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1023_1024delinsTA (p.Cys342Ser) ()
Ver todas no ClinVar

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 Apert

🗺️

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

33 ensaios clínicos encontrados, 1 ativos.

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

Timeline de publicações
358 papers (10 anos)
#1

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

BMJ case reports2026 Mar 05

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.

#2

Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.

PloS one2026

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.

#3

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

Genes2026 Jan 27

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.

#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

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.

#5

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Prenatal diagnosis2026 Mar

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

Ver todas no PubMed

📚 EuropePMC509 artigos no totalmostrando 195

2026

Diagnosing fetal apert syndrome: a case study on prenatal diagnosis and genetic insights.

Quantitative imaging in medicine and surgery
2026

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

BMJ case reports
2026

Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.

PloS one
2026

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

Genes
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

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Prenatal diagnosis
2026

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

International journal of pediatric otorhinolaryngology
2026

A Case of Complex Syndactyly with Apert Syndrome Treated with a Two-stage Interdigital Reconstruction Using Adipose Flaps.

Journal of plastic and reconstructive surgery
2025

The APERT Severity Scale: A Quantitative Tool for Risk Stratification in Apert Syndrome.

Plastic and reconstructive surgery
2025

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.

Frontiers in pediatrics
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
2025

Hotspots of human mutation point to clonal expansions in spermatogonia.

Nature
2025

Optimising anaesthetic management during fronto-orbital advancement in an infant with Apert syndrome.

BMJ case reports
2026

Human-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.

Journal of anatomy
2026

Not Apert Syndrome: A Critique of a Recent Case Report by Pan and Yang.

American journal of medical genetics. Part A
2025

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Dermatopathology (Basel, Switzerland)
2026

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

American journal of medical genetics. Part A
2025

3D Printing Today, AI Tomorrow: Rethinking Apert Syndrome Surgery in Low-Resource Settings.

Healthcare (Basel, Switzerland)
2025

Prenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases.

Translational pediatrics
2026

Brazilian Association of Apert Syndrome: Uniting Efforts for a National Comprehensive Care.

The Journal of craniofacial surgery
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

Identification 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 A
2025

Cranial Bone Changes Associated With Intracranial Hypertension in Apert Syndrome: Insights for Early Surgical Intervention.

Plastic and reconstructive surgery. Global open
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

The Revolutionary Role of Ultrasound in Anaesthetic Management of Apert Syndrome: A Report of Two Cases.

Cureus
2025

Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.

Molecular neurobiology
2025

FGFR2 residence in primary cilia is necessary for epithelial cell signaling.

The Journal of cell biology
2025

Respiratory and craniofacial management in children with Apert syndrome.

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

Upper Airway Obstruction Trends in Craniofacial Syndromes: A Comparative Study.

The Journal of craniofacial surgery
2025

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

The Journal of craniofacial surgery
2025

A 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 reanimation
2025

Investigation of Cranial Bone Changes Indicative of Increased Intracranial Pressure in Diverse Phenotypes of Craniosynostosis.

Plastic and reconstructive surgery. Global open
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

3D imaging reveals changes in the neurovascular architecture of the murine calvarium with aging.

Bone research
2025

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

Paediatric anaesthesia
2025

Intraoperative Skull Fracture During Halo Application in Subcranial Le Fort III: Strategies for Managing a Rare Complication.

The Journal of craniofacial surgery
2024

Apert syndrome in a 3-month-old male infant.

Asian journal of surgery
2024

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

Journal of neurosurgery. Pediatrics
2024

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

JBJS case connector
2025

Apert syndrome and obstructive sleep apnea: Timing for midface surgery.

Cranio : the journal of craniomandibular practice
2024

Long-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 Neurosurgery
2025

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

Plastic and reconstructive surgery
2024

Apert syndrome in a newborn with premature fusion of skull bones, a rostral nose, and cleft palate: A case report.

Clinical case reports
2024

A longitudinal study of the role of fingers in the development of early number and arithmetic skills in children with Apert syndrome.

Journal of anatomy
2024

Contemporary Management of the Upper Limb in Apert Syndrome: A Review.

Plastic and reconstructive surgery. Global open
2024

Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report.

International journal of surgery case reports
2025

Resection of Fourth-to-Fifth Metacarpal Synostosis and Fascial Interposition for Creation of a Functional Grip/Pinch in the Apert Hand.

Plastic and reconstructive surgery
2024

Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.

Diagnostics (Basel, Switzerland)
2024

Apert syndrome: craniofacial challenges and clinical implications.

BMJ case reports
2024

Early Cranioplasty in an Apert's Syndrome Infant With Occipital Encephalocele.

The Journal of craniofacial surgery
2024

Long-Term Follow-Up of Apert Syndrome Following Mid-Face Advancement: More Than 3 Decades Later.

The Journal of craniofacial surgery
2025

Webplasty using an external fixator for complex syndactyly caused by Apert syndrome.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2024

Humanitarian Facial Recognition for Rare Craniofacial Malformations.

Plastic and reconstructive surgery. Global open
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

Lacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.

Ophthalmic plastic and reconstructive surgery
2024

Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.

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

Successful reverse total shoulder replacement in a patient with Apert syndrome.

Shoulder &amp; elbow
2024

Apical expansion of calvarial osteoblasts and suture patency is dependent on fibronectin cues.

Development (Cambridge, England)
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

Virtual Reality and Mixed Reality-Assisted Endoscopic DCR in Extremely Complex Lacrimal Obstructions.

The Laryngoscope
2025

The Kaleidoscope of Midface Management in Apert Syndrome: A 23-Year Single-Institution Experience.

Plastic and reconstructive surgery
2024

Impact 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 surgery
2024

Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.

Molecular syndromology
2024

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

Pediatric research
2024

Delayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome.

Plastic and reconstructive surgery. Global open
2024

Ser252Trp mutation in fibroblast growth factor receptor 2 promotes branching morphogenesis in mouse salivary glands.

Journal of oral biosciences
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

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.

Cureus
2024

Clinical and operative risk factors for complications after Apert hand syndactyly reconstruction.

The Journal of hand surgery, European volume
2023

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.

Personalized medicine
2023

A Complex Case of Clino-Syndactyly with Fourth Metacarpal Aplasia.

Life (Basel, Switzerland)
2024

Sensitivity, Specificity, and Cutoff Identifying Optic Atrophy by Macular Ganglion Cell Layer Volume in Syndromic Craniosynostosis.

Ophthalmology
2023

Outcome of Bilateral Hand Reconstruction in a Child Presenting Late With Apert Syndrome: A Case Report and Literature Review.

Cureus
2023

Facial Fat Graft Injection Reduces Asymmetry and Improves Forehead Contour in Early Infancy Apert Syndrome Patients.

The Journal of craniofacial surgery
2023

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

The Journal of craniofacial surgery
2023

Outcomes of Apert Syndrome Hand Reconstruction With Tilapia Skin: A Prospective Study.

The Journal of craniofacial surgery
2023

Male reproductive ageing: a radical road to ruin.

Human reproduction (Oxford, England)
2023

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 Association
2024

Cleft 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 Association
2023

Apert Syndrome - caveats of squint management.

Romanian journal of ophthalmology
2023

Apert syndrome: a rare clinical image.

The Pan African medical journal
2023

Exosome-mediated small interfering RNA delivery inhibits aberrant osteoblast differentiation in Apert syndrome model mice.

Archives of oral biology
2023

Introduction of Spring-Assisted Cranioplasty for Bicoronal Synotosis in India: Description of First Case and Our Learning Experience.

Neurology India
2023

Apert Syndrome: Selection Rationale for Midface Advancement Technique.

Advances and technical standards in neurosurgery
2023

Orbital 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 open
2023

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Journal of sleep research
2024

Posterior Cranial Distraction in Craniosynostosis: A Systematic Review of the Literature.

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

Clinical-Epidemiological Study of a Cohort of 35 Patients with Craniosynostosis.

Maedica
2023

Clinical manifestations of Apert syndrome.

Clinical case reports
2023

Apert Syndrome Type III Hand: Prevalence and Outcomes.

The Journal of craniofacial surgery
2023

Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?

The Journal of craniofacial surgery
2023

Discussion of "Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?".

The Journal of craniofacial surgery
2023

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

International journal of dentistry
2023

Impact of paternal age on assisted reproductive technology outcomes and offspring health: a systematic review.

Andrology
2023

Persistent falcine sinus in the newborn: 3 case reports of associated anomalies.

Radiology case reports
2023

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

Journal of anatomy
2024

Preprocedural Electrophysiological Monitoring in Craniofacial Surgery for a Patient with Chiari Malformation.

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

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

Medicine
2022

Left Ophthalmic Segment Internal Carotid Artery Aneurysm Treated with Flow Diversion in a Child with Apert Syndrome: Technical Note.

Pediatric neurosurgery
2022

Cleft Palate in Apert Syndrome.

Journal of developmental biology
2022

Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia.

Ethiopian journal of health sciences
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

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

The Journal of craniofacial surgery
2022

Ruptured Sinus of Valsalva Aneurysm in Apert Syndrome: Case report.

Journal of community hospital internal medicine perspectives
2023

Cranial 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 Association
2022

Processes and patterns: Insights on cranial covariation from an Apert syndrome mouse model.

Developmental dynamics : an official publication of the American Association of Anatomists
2022

Apert Syndrome: Dental management considerations and objectives.

Journal of oral biology and craniofacial research
2022

Role of sperm DNA damage in creating de-novo mutations in human offspring: the 'post-meiotic oocyte collusion' hypothesis.

Reproductive biomedicine online
2022

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

Congenital anomalies
2022

Open-wedge osteotomy for thumb radial angulation in Apert syndrome using a bone-graft substitute.

Journal of pediatric orthopedics. Part B
2022

Variations in Paranasal Sinus Anatomy in Children With Apert Syndrome: A Radiological Analysis.

The Journal of craniofacial surgery
2022

Frontofacial Monobloc Advancement With Internal Distraction: Surgical Technique and Osteotomy Guide.

Operative neurosurgery (Hagerstown, Md.)
2022

Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.

Scientific reports
2022

Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.

Bone reports
2022

Endoscopic strip craniectomy with orthotic helmeting for safe improvement of head growth in children with Apert syndrome.

Journal of neurosurgery. Pediatrics
2022

Zygomatic 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 Surgery
2022

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

Plastic and reconstructive surgery
2022

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.

The Journal of craniofacial surgery
2022

Fronto-orbital Advancement and Anterior Cranial Vault Reconstruction.

Atlas of the oral and maxillofacial surgery clinics of North America
2022

Apert syndrome: an informative long-term dentofacial outcome.

BMJ case reports
2022

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

Journal of clinical medicine
2021

Long-term Management of a Patient with Apert Syndrome.

The journal of contemporary dental practice
2022

The potential role for phage therapy for genetic modification of cutaneous diseases.

Clinics in dermatology
2022

Distraction Lengthening of the Apert Thumb.

Plastic and reconstructive surgery
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

Excessive 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 physiology
2023

Psychological Adjustment in Apert Syndrome: Parent and Young Person Perspectives.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Acrocephalosyndactyly Type 1 (Apert Syndrome): A Case Report.

Indian dermatology online journal
2021

Acne Syndromes and Mosaicism.

Biomedicines
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
2022

Congenital musculoskeletal anomalies - key radiographic findings.

Pediatric radiology
2021

Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
2021

Apert Syndrome: An Insight Into Dentofacial Features.

Cureus
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

[Apert syndrome or acrocephalosyndactilia type I].

Revue medicale de Liege
2021

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

Acta neurochirurgica
2022

Does different cranial suture synostosis influence orbit volume and morphology in Apert syndrome?

International journal of oral and maxillofacial surgery
2022

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.

The Journal of craniofacial surgery
2021

Effect of Fibroblast Growth Factor 2 on Extraocular Muscle Structure and Function.

Investigative ophthalmology &amp; visual science
2022

Apert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement.

The Journal of craniofacial surgery
2021

Local Soft Tissue and Bone Displacements Following Midfacial Bipartition Distraction in Apert Syndrome - Quantification Using a Semi-Automated Method.

The Journal of craniofacial surgery
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

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
2021

Morphological Basis for Airway Surgical Intervention in Apert Syndrome.

Annals of plastic surgery
2021

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

Clinics in plastic surgery
2021

Monobloc Distraction and Facial Bipartition Distraction with External Devices.

Clinics in plastic surgery
2021

Le Fort II Distraction with Simultaneous Zygomatic Repositioning.

Clinics in plastic surgery
2021

Teaching healthcare professionals to see.

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

A pediatric case of transient periictal MRI abnormalities after repeated seizures.

Brain &amp; development
2021

Prevalence of cleft lip and palate and associated factors in Brazil's Midwest: a single-center study.

Brazilian oral research
2021

Syndrome-related outcomes following posterior vault distraction osteogenesis.

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

Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome.

Scientific reports
2021

Craniosynostosis and hydrocephalus: relevance and treatment modalities.

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

Craniosynostosis: Neonatal Perspectives.

NeoReviews
2021

Morphological improvement after multi-directional cranial distraction osteogenesis procedure for syndromic craniosynostosis.

Neurosurgical focus: Video
2021

Maxillary Changes Following Facial Bipartition - A Three-Dimensional Quantification.

The Journal of craniofacial surgery
2021

Satisfying Clinical and Functional Results in 12 Apert Children Treated With Soft Tissue Distractor.

Journal of pediatric orthopedics
2021

A Ser252Trp substitution in mouse FGFR2 results in hyperplasia of embryonic salivary gland parenchyma.

Journal of oral biosciences
2021

Slide Tracheoplasty for Tracheal Cartilaginous Sleeve in a Patient With Apert Syndrome.

The Annals of thoracic surgery
2021

Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.

Gene therapy
2021

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

Annals of plastic surgery
2021

Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report.

World journal of clinical cases
2021

Magnitude 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 Surgeons
2021

Le fort II distraction osteogenesis with a hybrid system for an Apert syndrome patient: A case report.

JPRAS open
2020

Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome.

BMC musculoskeletal disorders
2020

Apert syndrome: Cranial procedures and brain malformations in a series of patients.

Surgical neurology international
2020

From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

Dermatology practical &amp; conceptual
2021

Apert Hand Reconstruction: Do Partial-Thickness Skin Grafts Result in Flexion Scar Contracture?

The Journal of craniofacial surgery
2021

Co-occurrence of interrupted aortic arch and Apert syndrome: A case report.

Pediatrics and neonatology
2021

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

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2020

A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report.

Medicine
2021

Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis.

Journal of clinical ultrasound : JCU
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

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

Plastic and reconstructive surgery
2021

Aberrantly 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 Anatomists
2021

Helal Metatarsal Osteotomy in Apert Foot.

Journal of pediatric orthopedics
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
2021

Social 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 Association
2020

A Procedure for Designing Custom-Made Implants for Forehead Augmentation in People Suffering from Apert Syndrome.

Journal of medical systems
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

The Sins of Our Forefathers: Paternal Impacts on De Novo Mutation Rate and Development.

Annual review of genetics
2020

Morphological Differences in the Inferior Oblique Muscles from Subjects with Over-elevation in Adduction.

Investigative ophthalmology &amp; visual science
2022

Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology.

Fetal and pediatric pathology
2020

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

Plastic and reconstructive surgery
2020

Management of Paronychia in Patients With Apert Syndrome.

Techniques in hand &amp; upper extremity surgery
Ver todos os 509 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. Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.
    BMJ case reports· 2026· PMID 41786440mais citado
  2. Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.
    PloS one· 2026· PMID 41770740mais citado
  3. The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
    Genes· 2026· PMID 41751524mais 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. Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
    Prenatal diagnosis· 2026· PMID 41705932mais citado
  6. ERK-Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells.
    Adv Sci (Weinh)· 2026· PMID 41961483recente
  7. [Ocular manifestations of Apert syndrome: a case report].
    Zhonghua Yan Ke Za Zhi· 2026· PMID 41946598recente
  8. Health-Related Quality of Life Outcomes in Pediatric Patients With Apert Syndrome.
    J Hand Surg Am· 2026· PMID 41925671recente
  9. Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures-Case Report.
    Pathophysiology· 2026· PMID 41893374recente
  10. Digital Planning and Patient-Specific Implants Facilitate Accurate Conventional Sub-Cranial Le Fort III Advancement.
    J Oral Maxillofac Surg· 2026· PMID 41887612recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:87(Orphanet)
  2. OMIM OMIM:101200(OMIM)
  3. MONDO:0007041(MONDO)
  4. GARD:5833(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Síndrome Apert
Compêndio · Raras BR

Síndrome Apert

ORPHA:87 · MONDO:0007041
Prevalência
1-9 / 100 000
Herança
Autosomal dominant
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
CID-11
Ensaios
1 ativos
Início
Antenatal, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0001193
EuropePMC
Wikidata
Wikipedia
Papers 10a
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