Raras
Buscar doenças, sintomas, genes...
Síndrome Pfeiffer
ORPHA:710CID-10 · Q87.0CID-11 · LD24.G0OMIM 101600DOENÇA RARA

A síndrome de Pfeiffer (SP) é uma forma comum de acrocefalossindactilia, um grupo de doenças hereditárias (passadas de pais para filhos) que causam malformações congênitas (presentes desde o nascimento). Ela se caracteriza por diferentes graus de fechamento precoce dos ossos da parte superior da cabeça (craniossinostose bicoronal), malformações variadas nas mãos e nos pés, e outras manifestações associadas diversas.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Pfeiffer (SP) é uma forma comum de acrocefalossindactilia, um grupo de doenças hereditárias (passadas de pais para filhos) que causam malformações congênitas (presentes desde o nascimento). Ela se caracteriza por diferentes graus de fechamento precoce dos ossos da parte superior da cabeça (craniossinostose bicoronal), malformações variadas nas mãos e nos pés, e outras manifestações associadas diversas.

Pesquisas ativas
1 ensaio
28 total registrados no ClinicalTrials.gov
Publicações científicas
369 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
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
20 sintomas
😀
Face
14 sintomas
👁️
Olhos
5 sintomas
👂
Ouvidos
4 sintomas
🫃
Digestivo
4 sintomas
🧠
Neurológico
4 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

100%prev.
Manga cartilaginosa traqueal
Frequência: 20/20
90%prev.
Ptose
Muito frequente (99-80%)
90%prev.
Hipoplasia do osso zigomático
Muito frequente (99-80%)
90%prev.
Polegar largo
Muito frequente (99-80%)
55%prev.
Braquidactilia
Frequente (79-30%)
55%prev.
Ponte nasal ampla
Frequente (79-30%)
81sintomas
Muito frequente (4)
Frequente (8)
Ocasional (13)
Sem dados (56)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 81 características clínicas mais associadas, ordenadas por frequência.

Manga cartilaginosa traquealTracheal cartilaginous sleeve
Frequência: 20/20100%
PtosePtosis
Muito frequente (99-80%)90%
Hipoplasia do osso zigomáticoHypoplasia of the zygomatic bone
Muito frequente (99-80%)90%
Polegar largoBroad thumb
Muito frequente (99-80%)90%
BraquidactiliaBrachydactyly
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico369PubMed
Últimos 10 anos145publicações
Pico202121 papers
Linha do tempo
2026Hoje · 2026🧪 2012Primeiro 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

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

FGFR2Fibroblast growth factor receptor 2Disease-causing germline mutation(s) 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
FGFR1Fibroblast growth factor receptor 1Disease-causing germline mutation(s) 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 embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati

LOCALIZAÇÃO

Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle

VIAS BIOLÓGICAS (2)
Epithelial-Mesenchymal Transition (EMT) during gastrulationFormation of paraxial mesoderm
MECANISMO DE DOENÇA

Pfeiffer syndrome

A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
144.8 TPM
Ovário
142.9 TPM
Artéria tibial
134.1 TPM
Fallopian Tube
122.3 TPM
Cérebro - Hemisfério cerebelar
122.0 TPM
OUTRAS DOENÇAS (20)
Hartsfield-Bixler-Demyer syndromeencephalocraniocutaneous lipomatosisosteoglophonic dysplasiaPfeiffer syndrome
HGNC:3688UniProt:P11362

Variantes genéticas (ClinVar)

776 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

Classificação de variantes (ClinVar)

Distribuição de 858 variantes classificadas pelo ClinVar.

86
300
472
Patogênica (10.0%)
VUS (35.0%)
Benigna (55.0%)
VARIANTES MAIS SIGNIFICATIVAS
FGFR1: NM_023110.3(FGFR1):c.2156T>C (p.Met719Thr) [Likely pathogenic]
FGFR1: NM_023110.3(FGFR1):c.570del (p.Trp190fs) [Pathogenic]
FGFR1: NM_023110.3(FGFR1):c.1211AGA[1] (p.Lys405del) [Uncertain significance]
FGFR1: NM_023110.3(FGFR1):c.1799T>C (p.Leu600Pro) [Uncertain significance]
FGFR1: NM_023110.3(FGFR1):c.280G>A (p.Ala94Thr) [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 Pfeiffer

🗺️

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

28 ensaios clínicos encontrados, 1 ativos.

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

Timeline de publicações
146 papers (10 anos)
#1

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.

#2

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

International journal of pediatric otorhinolaryngology2026 Mar

This study aimed to evaluate the incidence of tracheal cartilaginous sleeve (TCS) among syndromic craniosynostosis patients, as well as describe their genetic profiles, associated co-morbidities, and operative outcomes. We performed a retrospective analysis of syndromic craniosynostosis patients (Apert, Crouzon, and Pfeiffer) at a single tertiary academic center between January 1, 2002, and February 1, 2024. 39 patients with syndromic craniosynostosis were identified, with 17 patients (17/39, 43.6%) undergoing airway evaluation. 1 patient (1/17, 5.9%) was diagnosed with TCS, but 5 patients (5/17, 29.4%) had other airway abnormalities, all reflecting abnormalities of the airway wall or some type of airway stenosis. 28 patients (28/39, 73.7%) presented with a diagnosis of OSA, and 7 patients (7/39, 17.9%) of patients presented with choanal anomaly (atresia or stenosis). 32 patients (32/39, 82.1%) had genetic sequencing information available, with the most common mutations affecting p.P253R within the FGFR2 gene in 7 patients. No patients in our cohort presented with a p.W290 mutation and 7 patients presented with a p.C342 mutation, of which 4 patients had the p.C342Y mutation. The true prevalence of TCS may be likely lower than prior reports, which may aid with alleviating some familial anxiety and provide additional context and data for medical counseling and decision-making. Nonetheless, all patients should be strongly recommended to undergo airway evaluation given the risks associated with TCS, the high prevalence of structural airway anomalies, and the overall low risk of airway evaluation.

#3

Cranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis.

Journal of stomatology, oral and maxillofacial surgery2026 Feb

Pfeiffer syndrome is characterized by craniosynostosis, midfacial hypoplasia, and severe ocular proptosis, with complex surgical management and a high risk of relapse. Despite recent advances in surgical techniques and multidisciplinary care, evidence on the craniofacial morphology and growth patterns remains limited. This study aims to provide a comprehensive analysis of cranial base and midfacial morphology and growth pattern in patients with Pfeiffer syndrome. Twelve CT scans from patients with Pfeiffer syndrome and ten age-matched controls were retrospectively accessed for research purposes between 01/11/2015 and 31/12/ 2023. Using high-quality 3D morphometric analyses, various cranial base and midface landmarks were measured. The data were analyzed using Mann-Whitney U test to compare the deviations. The study revealed significant craniofacial deformities in Pfeiffer syndrome, particularly within the first year of life. There was a shortening in the middle cranial fossa and a tendency towards cranial base kyphosis. The deformity of sphenoid bone involved in body and pterygoid plates exhibited restricted growth in anteroposterior, sagittal, and transverse directions. The lengths of the maxilla, zygoma and plate were shortened. There was more retrusion in the orbital floor and zygoma compared to the rest of the midface. The developmental abnormalities of the sphenoid bone have a massive impact on the overall midfacial morphology and function. The maxilla-zygomatic-orbit complex deformities are characterized by localized underdevelopment rather than uniform growth deficiency. Early and precise surgical interventions and improved surgical methods are crucial for better prognosis.

#4

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

The Journal of craniofacial surgery2026

Frontofacial monobloc advancement (FFMBA) is among the most complex craniofacial surgeries performed; however, the learning curve for this procedure has not been previously documented. In this study, we retrospectively investigated the learning process of a newly trained surgeon performing FFMBA. Twenty patients who underwent FFMBA between 2015 and 2024 were included in this study. All surgeries were performed by the same craniofacial surgeon and pediatric neurosurgeons. Operative time, blood loss, and complications were retrospectively analyzed using the Wilcoxon matched-pairs signed-rank test, with statistical significance set at P <0.01. The study included 14 patients with Crouzon syndrome, 5 with Pfeiffer syndrome, and 1 with Beare-Stevenson syndrome (mean age: 10.6±12.7 y; range: 3-62 y). Operative time ranged from 218 to 510 minutes (mean: 321.9±83.5 min), and blood loss ranged from 350 to 2822 mL (mean: 944.1±621.3 mL), gradually decreasing over time. The patients were categorized into two groups based on their history of frontal surgery. Operative time and blood loss were significantly higher in patients with previous surgeries ( P <0.01). Complications, including meningitis, distractor prolapse, frontal bone resorption, and recurrent nerve palsy, occurred only in the previously treated group. The learning curve for FFMBA is influenced by the patient's surgical history, particularly previous frontal surgeries. Careful case selection and collaboration within a multidisciplinary craniofacial team are essential for safely and effectively implementing this complex procedure.

#5

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

American journal of medical genetics. Part A2026 Jan

Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous 'mitten' syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p.(Ser252Trp) (S252W) or p.(Pro253Arg) (P253R). We report a patient with unicoronal craniosynostosis and near normal limbs, in whom we unexpectedly identified a heterozygous FGFR2 S252W variant. Her mother, who had no history suggestive of craniosynostosis and only mild brachydactyly, was also found to carry the variant. We discuss evidence that the presence of a second novel FGFR2 p.(Gly261Arg) missense variant, identified in cis in both patients, could explain the mild phenotype. A similar mechanism may be responsible for occasional reports of Pfeiffer syndrome associated with a common Apert genotype, for which no molecular mechanism has been elucidated previously. Our findings provide further insight into the mechanism of the severe syndactyly that is usually characteristic of Apert syndrome.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC175 artigos no totalmostrando 143

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

Cranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis.

Journal of stomatology, oral and maxillofacial surgery
2026

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

The Journal of craniofacial surgery
2025

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

Plastic and reconstructive surgery. Global open
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

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

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Clinical medicine insights. Case reports
2025

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Genes
2025

A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney.

Journal of obstetrics and gynaecology of India
2025

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

American journal of medical genetics. Part A
2025

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

The Journal of craniofacial surgery
2024

An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.

Quantitative imaging in medicine and surgery
2024

Prolonged Ventilator Dependency in a Pediatric ICU Patient With Pfeiffer Syndrome Following Le Fort I Osteotomy and Distraction Osteogenesis: A Case Report.

Cureus
2024

Anesthetic Management of a Pediatric Patient With Pfeiffer Syndrome.

Anesthesia progress
2025

Frontal Bone Resorption after Frontofacial Monobloc Advancement in FGFR -Related Craniosynostoses: Predictive Factors.

Plastic and reconstructive surgery
2024

AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.

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

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.

Taiwanese journal of obstetrics &amp; gynecology
2025

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

Plastic and reconstructive surgery
2023

Case report: A girl with witnessed sleep apnea.

Frontiers in neurology
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

Approaches to ventriculoperitoneal shunt scalp erosion: countersinking into the calvarium. Illustrative case.

Journal of neurosurgery. Case lessons
2023

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

Life (Basel, Switzerland)
2023

The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.

The Journal of craniofacial surgery
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

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome.

Genes
2022

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome.

Case reports in genetics
2022

Prenatal imaging of a fetus with the rare combination of Pfeiffer syndrome and hypoplastic left heart syndrome.

Journal of medical ultrasonics (2001)
2022

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

Genes
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

[A case of Pfeiffer syndrome caused by FGFR2 gene variation].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
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

Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report.

Children (Basel, Switzerland)
2022

Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.

Bone reports
2022

Absence of Bilateral Multiple Cyclovertical Muscle Insertions in a Patient With Pfeiffer Syndrome.

Journal of pediatric ophthalmology and strabismus
2022

Fronto-orbital Advancement and Anterior Cranial Vault Reconstruction.

Atlas of the oral and maxillofacial surgery clinics of North America
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

Computer-Assisted Frontofacial Monobloc Advancement and Facial Bipartition for Pfeiffer Syndrome: Surgical Technique.

World neurosurgery
2022

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.

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
2021

Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.

The Pan African medical journal
2021

Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.

Optometry and vision science : official publication of the American Academy of Optometry
2021

Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.

Clinical case reports
2021

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

Paediatric anaesthesia
2021

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

Acta neurochirurgica
2021

Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.

The American journal of case reports
2021

Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings.

Radiology case reports
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
2022

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

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

Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.

The Laryngoscope
2021

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

Clinics in plastic surgery
2021

Syndrome-related outcomes following posterior vault distraction osteogenesis.

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

Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome.

The British journal of oral &amp; maxillofacial surgery
2021

Craniosynostosis and hydrocephalus: relevance and treatment modalities.

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

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity.

BMJ case reports
2021

Craniosynostosis: Neonatal Perspectives.

NeoReviews
2021

Cephalocranial Disproportionate Fossa Volume and Normal Skull Base Angle in Pfeiffer 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

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
2020

Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion.

Plastic and reconstructive surgery. Global open
2021

Nervous system involvement in Pfeiffer syndrome.

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

Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.

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
2020

Pfeiffer Syndrome type 2; A case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania.

Clinical case reports
2020

Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome.

International journal of pediatric otorhinolaryngology
2020

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.

The application of clinical genetics
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

Long Term Speech Outcomes Following Midface Advancement in Syndromic Craniosynostosis.

The Journal of craniofacial surgery
2020

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

Plastic and reconstructive surgery
2020

Pfeiffer Syndrome: A Therapeutic Algorithm Based on a Modified Grading Scale.

Plastic and reconstructive surgery. Global open
2020

Timing of Ossification of the Anterior Skull Base in Syndromic Synostosis.

The Journal of craniofacial surgery
2020

Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis.

Plastic and reconstructive surgery
2020

Kleeblattschädel in Pfeiffer syndrome type II.

Radiology case reports
2019

High-flow nasal cannula for children not compliant with continuous positive airway pressure.

Sleep medicine
2019

The growth of the posterior cranial fossa in FGFR2-induced faciocraniosynostosis: A review.

Neuro-Chirurgie
2019

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

American journal of medical genetics. Part A
2019

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

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

Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice.

Disease models &amp; mechanisms
2019

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.

Molecular genetics &amp; genomic medicine
2019

Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.

Fetal and pediatric pathology
2019

Correcting Exorbitism by Monobloc Frontofacial Advancement in Crouzon-Pfeiffer Syndrome: An Age-Specific, Time-Related, Controlled Study.

Plastic and reconstructive surgery
2019

Overcorrected Midface Advancement to Improve Airway Problems in Severe Pfeiffer Syndrome Types II and III.

The Journal of craniofacial surgery
2020

Up-regulation of fibroblast growth factor receptor 1 due to prenatal tobacco exposure can lead to developmental defects in new born.

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
2019

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.

Congenital anomalies
2018

Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome.

Pediatric radiology
2019

A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.

Genetics in medicine : official journal of the American College of Medical Genetics
2018

Association between the FGFR1 rs13317 single nucleotide polymorphism and orbitale-nasion depth based on cephalometric images.

Journal of human genetics
2018

Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review.

Clinical dysmorphology
2018

Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis.

Orphanet journal of rare diseases
2018

Modified Le Fort III osteotomy: A simple solution to severe midfacial hypoplasia.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2018

Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature.

Italian journal of pediatrics
2017

Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn Hearing Screening Programme.

Irish medical journal
2018

Clinical Significance of Venous Anomalies in Syndromic Craniosynostosis.

Plastic and reconstructive surgery. Global open
2018

Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.

Prenatal diagnosis
2018

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

Journal of applied genetics
2018

Choanal Atresia and Craniosynostosis: Development and Disease.

Plastic and reconstructive surgery
2018

Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report.

The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons
2018

Anterior Skull Base and Pericranial Flap Ossification after Frontofacial Monobloc Advancement.

Plastic and reconstructive surgery
2017

Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.

Radiographics : a review publication of the Radiological Society of North America, Inc
2017

Growth curves for intracranial volume in normal Asian children fortify management of craniosynostosis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2017

Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis.

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
2017

Five-Year Follow-Up of Midface Distraction in Growing Children with Syndromic Craniosynostosis.

Plastic and reconstructive surgery
2017

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.

American journal of medical genetics. Part A
2017

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

BMC genetics
2017

A Case of Pediatric Post-Traumatic Stress Disorder Presenting as Attention Deficit Hyperactivity Disorder: A Case Report.

Cureus
2017

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.

Taiwanese journal of obstetrics &amp; gynecology
2017

Alar Pinning in Rigid External Distraction for Midfacial Hypoplasia.

Annals of plastic surgery
2017

Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality.

The Journal of craniofacial surgery
2017

Corrigendum to "Ophthalmic considerations in patients with pfeiffer syndrome." [Am. J. Ophthalmol. Case Reports (2) 2016 1-3].

American journal of ophthalmology case reports
2017

Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis.

The British journal of ophthalmology
2017

Contribution of FGFR1 Variants to Craniofacial Variations in East Asians.

PloS one
2017

Evaluating the Efficacy of Monobloc Distraction in the Crouzon-Pfeiffer Craniofacial Deformity Using Geometric Morphometrics.

Plastic and reconstructive surgery
2017

Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme.

Biology open
2017

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.

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
2016

Syndromic Craniosynostosis.

Facial plastic surgery clinics of North America
2017

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

American journal of medical genetics. Part A
2016

Fronto-facial advancement and bipartition in Crouzon-Pfeiffer and Apert syndromes: Impact of fronto-facial surgery upon orbital and airway parameters in FGFR2 syndromes.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2017

Proposed caudal appendage classification system; spinal cord tethering associated with sacrococcygeal eversion.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2016

FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

American journal of medical genetics. Part A
2016

The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2016

Prevention and management of hearing loss in syndromic craniosynostosis: A case series.

International journal of pediatric otorhinolaryngology
2016

Genetic Syndromes Associated with Craniosynostosis.

Journal of Korean Neurosurgical Society
2016

Ophthalmic considerations in patients with Pfeiffer syndrome.

American journal of ophthalmology case reports
2016

Transmaxillary Sinus Approach for Le Fort II Osteotomy.

Plastic and reconstructive surgery. Global open
2016

Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.

Pediatric radiology
2016

Cochlear Implantation in a Patient With Pfeiffer Syndrome and Temporal Bone Vascular Anomalies.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2016

Avoidance of a potential tracheoinnominate fistula by innominate artery re-implantation in a four year old girl with tracheostomy dependence and Pfeiffer syndrome.

International journal of pediatric otorhinolaryngology
2016

A low-cost method of craniofacial distraction osteogenesis.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2016

The prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis.

International journal of oral and maxillofacial surgery
2015

Appropriate indication of fronto-orbital advancement by distraction osteogenesis in syndromic craniosynostosis: Beyond the conventional technique.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2016

First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?

Plastic and reconstructive surgery
2015

FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Human molecular genetics
2015

A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History.

A &amp; A case reports
2015

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

European journal of medical genetics
2015

Progressive postnatal pansynostosis: an insidious and pernicious form of craniosynostosis.

Journal of neurosurgery. Pediatrics
2015

Radiographic manifestations in Pfeiffer syndrome.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2015

Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis.

Neurosurgery
2015

Describing Crouzon and Pfeiffer syndrome based on principal component analysis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2015

Fast dynamic imaging technique to identify obstructive lesions in the CSF space: report of 2 cases.

Journal of neurosurgery. Pediatrics
2015

Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis.

The Journal of craniofacial surgery
Ver todos os 175 no EuropePMC

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
    Prenatal diagnosis· 2026· PMID 41705932mais citado
  2. Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
    International journal of pediatric otorhinolaryngology· 2026· PMID 41637834mais citado
  3. Cranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis.
    Journal of stomatology, oral and maxillofacial surgery· 2026· PMID 41232649mais citado
  4. Analysis of the Learning Curve for a Surgeon Newly Trained in Frontofacial Monobloc Advancement.
    The Journal of craniofacial surgery· 2026· PMID 41231589mais citado
  5. 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· 2026· PMID 40843924mais citado
  6. Positive Impact of Frontofacial Advancement on Intracranial Volumes in Patients With Syndromic Craniofaciosynostosis.
    Plast Reconstr Surg Glob Open· 2025· PMID 41122357recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:710(Orphanet)
  2. OMIM OMIM:101600(OMIM)
  3. MONDO:0007043(MONDO)
  4. GARD:7380(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1286848(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 Pfeiffer
Compêndio · Raras BR

Síndrome Pfeiffer

ORPHA:710 · MONDO:0007043
Prevalência
Unknown
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 (Worldwide)
MedGen
UMLS
C0220658
EuropePMC
Wikidata
Wikipedia
Papers 10a
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