Raras
Buscar doenças, sintomas, genes...
Síndrome de fibromatose gengival-dismorfia facial
ORPHA:2025CID-10 · Q87.0OMIM 228560DOENÇA RARA

A síndrome de Fibromatose Gengival – Dismorfismo Facial é uma condição muito rara, caracterizada pela combinação de fibromatose gengival (que é o crescimento exagerado da gengiva) e dismorfismo craniofacial (alterações na forma do crânio e do rosto).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de Fibromatose Gengival – Dismorfismo Facial é uma condição muito rara, caracterizada pela combinação de fibromatose gengival (que é o crescimento exagerado da gengiva) e dismorfismo craniofacial (alterações na forma do crânio e do rosto).

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

😀
Face
5 sintomas
🦷
Dentes
2 sintomas
👁️
Olhos
1 sintomas
🧠
Neurológico
1 sintomas
📏
Crescimento
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

90%prev.
Morfologia dentária anormal
Muito frequente (99-80%)
90%prev.
Asas nasais subdesenvolvidas
Muito frequente (99-80%)
90%prev.
Fibromatose gengival
Muito frequente (99-80%)
90%prev.
Ponte nasal deprimida
Muito frequente (99-80%)
90%prev.
Sinofris
Muito frequente (99-80%)
90%prev.
Erupção atrasada dos dentes
Muito frequente (99-80%)
14sintomas
Muito frequente (12)
Frequente (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.

Morfologia dentária anormalAbnormal dental morphology
Muito frequente (99-80%)90%
Asas nasais subdesenvolvidasUnderdeveloped nasal alae
Muito frequente (99-80%)90%
Fibromatose gengivalGingival fibromatosis
Muito frequente (99-80%)90%
Ponte nasal deprimidaDepressed nasal bridge
Muito frequente (99-80%)90%
SinofrisSynophrys
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202128 papers
Linha do tempo
2026Hoje · 2026📈 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de fibromatose gengival-dismorfia facial

🗺️

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

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

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

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

BMJ case reports2026 Mar 13

Sjögren-Larsson syndrome (SLS) constitutes a rare genetic disorder manifesting as a complex neurocutaneous condition characterised by congenital ichthyosis, progressive neurological impairment and intellectual disability. This case report presents an early childhood female patient exhibiting the classic triad of symptoms, along with significant oral complications, including severe dental caries, enamel demineralisation and gingivitis. Molecular genetic testing confirmed a homozygous pathogenic variant in the ALDH3A2 (Aldehyde Dehydrogenase 3 family member 2) gene, establishing the diagnosis. The patient's management encompassed a comprehensive multidisciplinary approach, integrating dental interventions under general anaesthesia, systemic therapies for spasticity and cutaneous manifestations, and regular follow-up care. This case highlights the critical importance of recognising oral manifestations in SLS and emphasises the need for integrated oral healthcare within the broader therapeutic framework for affected individuals.

#2

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.

Cell proliferation2026 Feb

Amelogenesis imperfecta type 1G (AI1G), also known as Enamel-Renal-Gingival Syndrome (ERGS), is an autosomal recessive disorder caused by variants in FAM20A, encoding a Golgi apparatus protein crucial for protein processing and secretion. AI1G presents with enamel defects, nephrocalcinosis and gingival overgrowth. Building upon our previous findings demonstrating the impact of FAM20A insufficiency on deciduous dental pulp cells, this study investigated the molecular mechanisms underlying gingival fibromatosis in AI1G. RNA sequencing of gingival fibroblasts from an AI1G patient revealed widespread differential gene expression (DEG). Gene Ontology (GO) analysis demonstrated enrichment of DEGs in biological processes related to cell adhesion, differentiation, proliferation (including positive regulation and cell division), cell cycle regulation, apoptosis and signal transduction. Pathway analysis (Reactome and KEGG) further highlighted the dysregulation of signalling pathways, including Wnt, TGF-β, cell cycle, DNA replication, Rho GTPase signalling and extracellular matrix organisation. Functional assays confirmed these findings, revealing delayed initial attachment and spreading, impaired osteogenic differentiation (evidenced by reduced mineralization and downregulation of DLX5, OCN, RUNX2 and OPN), enhanced cell cycle progression and proliferation (increased colony size and proliferation rates, along with a shift from G0/G1 to G2/M phase) and suppressed apoptosis in FAM20A-insufficient fibroblasts. These results suggest that FAM20A plays a critical role in regulating fundamental processes in gingival fibroblasts, and its insufficiency contributes to the gingival fibromatosis phenotype observed in AI1G through the disruption of cell adhesion, differentiation, proliferation and apoptosis. This study proposes novel insights into the pathogenesis of AI1G and highlights potential therapeutic targets for this complex disorder.

#3

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Clinical genetics2026 Jan

Jones syndrome (JS) is an ultra-rare autosomal dominant condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been recently demonstrated in members of a Finnish family to co-segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1-silencing transcription factor gene (REST). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38-year-old woman, and in her mother. Exome Sequencing identified in both, but not in clinically unaffected members of the family (i.e., a sister and the brother of the proband), the heterozygous pathogenic variant c.2645T>G (p.Leu882*) in exon-5 of the REST gene. This study confirms that exon-5 REST variants cause JS.

#4

Role of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery2026 Feb

Oral telangiectasias in hereditary hemorrhagic telangiectasia (HHT) can significantly impair quality of life. While sclerotherapy is an established treatment for HHT-related epistaxis, it is rarely used for oral telangiectasias. We retrospectively reviewed HHT patients who underwent oral sclerotherapy between 2021 and 2024 at a tertiary academic center. Eleven patients (64% female, mean age 61.3 years, 82% ACVRL1 genotype) underwent sclerotherapy using a 1:4 mixture of 3% sodium tetradecyl sulfate and air. Lesions treated included the lip (36%), tongue (36%), hard palate (18%), and gingiva (9%). Presenting symptoms included oral bleeding with eating and dietary limitations. Adverse effects included transient lip swelling (n = 2) and tongue burning (n = 1). At an average follow-up of 6 months, 10/11 patients with follow-up data had complete symptomatic and clinical resolution. Our findings suggest that oral sclerotherapy is a safe, effective, and minimally invasive treatment for HHT-related oral bleeding that clinicians should consider.

#5

Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology2026 Mar

Hereditary gingival fibromatosis (HGF) is a rare, genetically heterogeneous disorder characterized by benign, slowly progressive fibrous overgrowth of the gingiva. This study aimed to identify the pathogenic genes responsible for non-syndromic HGF and to elucidate the activation mechanism for truncated SOS1 protein. Genomic DNA was extracted from peripheral blood samples of two unrelated Han Chinese families with non-syndromic HGF. Whole-genome sequencing (WGS) was utilized to identify pathogenic mutations. Bioinformatic analyses were conducted to predict the deleteriousness of the identified mutations. The phenotypic spectrum of SOS1 mutations was summarized by literature review methods, with a particular focus on the gingival hyperplasia phenotype. Genotype-phenotype correlations were analyzed. WGS identified two novel SOS1 mutations, c.3262dupA/p.Thr1088fs and c.1523A>G/p.Asn508Ser in two unrelated Han Chinese families with non-syndromic HGF. MutationTaster and CADD revealed the c.1523A>G/p.Asn508Ser mutation as disease-causing. The mutational spectrum of SOS1 showed a predominance of missense mutations, among which three were linked to the gingival hyperplasia phenotype. Frameshift mutations in the C-terminal region of SOS1 were all associated with the gingival hyperplasia phenotype. A novel "Dual-Gated Model" was introduced to elucidate the activation mechanisms for both the normal and truncated forms of SOS1. Our study identified two novel SOS1 mutations, c.3262dupA/p.Thr1088fs and c.1523A>G/p.Asn508Ser, in two unrelated Han Chinese families with non-syndromic HGF. A novel "Dual-Gated Model" was proposed to elucidate the full activation process of wild-type and truncated SOS1. We extended the mutational spectrum of SOS1 in non-syndromic HGF and provided new insights on the molecular mechanism of pathogenesis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

BMJ case reports
2026

Role of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

International journal of molecular sciences
2026

Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2025

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Matrix biology : journal of the International Society for Matrix Biology
2025

Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Journal of medical case reports
2026

Clinical insights into dental care for siblings with Jamuar syndrome: a rare genetic dual case report.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2026

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.

Cell proliferation
2025

Silver-Russell syndrome: phenotype features and oral health status.

Orphanet journal of rare diseases
2025

Oral and maxillofacial clinical features of Ehlers-Danlos syndrome: a systematic review.

Oral surgery, oral medicine, oral pathology and oral radiology
2026

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Clinical genetics
2025

Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.

BMC oral health
2025

Transformative Dental Care in Pediatric Moebius Syndrome: Bridging Oral Health and Systemic Management During Prolonged Hospitalization.

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
2025

Behavioral Correlates of Caregiver-Reported Oral Health of Individuals With Joubert Syndrome: A Cross-Sectional Observational Study.

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
2025

A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.

Clinical genetics
2025

Surgical management of hereditary gingival fibromatosis associated with Zimmermann-Laband syndrome using conventional, electrocautery and diode laser gingivectomy.

BMJ case reports
2025

Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.

American journal of medical genetics. Part A
2025

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

Molecular neurobiology
2025

Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder.

Clinical genetics
2025

Smith-Lemli-Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development.

Biomedicines
2025

The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review.

European journal of medical genetics
2025

Association between serum levels of inflammatory mediators and periodontitis severity in people with down syndrome.

Cytokine
2025

Cleansing efficacy of an auto-cleaning device versus an oscillating- rotating toothbrush in home use. A pilot study in individuals with down syndrome.

Clinical oral investigations
2025

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

Annals of clinical and translational neurology
2025

Periodontal diseases in Down syndrome during childhood: a scoping review.

BMC oral health
2025

Direct evaluation of salivary antioxidant properties in patients with down syndrome for assessment to periodontal disease and premature aging.

Free radical biology &amp; medicine
2025

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature.

Pediatric endocrinology, diabetes, and metabolism
2024

Cannabinoid inhibition of mechanosensitive K+ channels.

bioRxiv : the preprint server for biology
2024

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Allergologie select
2024

Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.

International journal of molecular sciences
2024

Clinical outcomes of gingivoperiosteoplasty for unilateral cleft lip and palate performed in early childhood.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2024

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.

Seizure
2024

Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report.

The Journal of clinical pediatric dentistry
2024

Orthodontic findings in adults with Trisomy 21.

Clinical oral investigations
2024

Mini-implant assisted palate expansion and digital design in junctional epidermolysis bullosa and amelogenesis imperfecta: Case report.

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
2024

Treatment and genetic analysis of multiple supernumerary and impacted teeth in an adolescent patient.

BMC oral health
2024

Primary immune thrombocytopenic purpura with exuberant oral manifestations in a patient with Turner syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2025

A Japanese Boy with Dysmorphic Syndrome with Multiple Pituitary Hormone Deficiency and Gingival Fibromatosis Due to a Pathogenic KCNQ1 Variant.

Internal medicine (Tokyo, Japan)
2024

Cytokine levels in the gingival crevicular fluid and their association with periodontal status of down syndrome patients: a cross-sectional study.

Clinical oral investigations
2024

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.

BMC oral health
2024

Vacterl syndrome: Medical and stomatological considerations for comprehensive patient management.

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
2024

Enamel Renal Gingival Syndrome in an Adolescent.

Journal of dentistry for children (Chicago, Ill.)
2024

Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.

Scientific reports
2024

ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

American journal of medical genetics. Part A
2024

In-depth investigation of FAM20A insufficiency effects on deciduous dental pulp cells: Altered behaviours, osteogenic differentiation, and inflammatory gene expression.

International endodontic journal
2024

Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.

Human cell
2024

Orthodontic management of patient with Silver-Russell Syndrome (SRS). A case report.

European journal of paediatric dentistry
2023

[Culler-Jones syndrome caused by a new mutated GLI2 gene: a case report].

Zhonghua nei ke za zhi
2023

Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study.

European review for medical and pharmacological sciences
2023

Moebius Syndrome: An Updated Review of Literature.

Child neurology open
2023

Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report.

BMC pediatrics
2023

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.

International journal of oral science
2024

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

American journal of medical genetics. Part A
2024

Enamel renal syndrome: A case report with calcifications in pulp, gingivae, dental follicle and kidneys.

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
2023

A Comparative Evaluation of Physical Parameters of Saliva and Correlation with Periodontal Condition in Down Syndrome Children and Healthy Controls.

The journal of contemporary dental practice
2023

Oral findings in children with congenital cholestatic disease: A systematic review of case reports and case series.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2024

Association of Down syndrome with periodontal diseases: Systematic review and meta-analysis.

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
2024

Oral health characteristics in children and adolescents with Down syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2024

Oral manifestations of nine individuals with Williams syndrome. A case series.

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
2024

Factors associated with halitosis reported by parents/caregivers in individuals with Down syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2023

FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.

International endodontic journal
2023

Comparison of periodontal indices, DMFT, xerostomia, hyposalivation and oral health-related quality of life in Sjögren's syndrome patients versus healthy individuals: A case-control study.

Dental and medical problems
2023

Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome.

International journal of molecular sciences
2023

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.

Frontiers in immunology
2023

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review.

Frontiers in endocrinology
2023

Bidirectional association between polycystic ovary syndrome and periodontal diseases.

Frontiers in endocrinology
2023

The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.

European journal of human genetics : EJHG
2023

[Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy.

Frontiers in molecular neuroscience
2023

Clinical Considerations of Ehlers-Danlos Syndrome for Implant Dentistry: Two Case Reports.

The International journal of periodontics &amp; restorative dentistry
2023

Pathogenic REST variant causing Jones syndrome and a review of the literature.

European journal of human genetics : EJHG
2022

Dental Plaque Removal with Two Special Needs Toothbrushes in Patients with Down Syndrome: A Parallel-Group Randomised Clinical Trial of Efficacy.

Oral health &amp; preventive dentistry
2022

KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.

International journal of molecular sciences
2022

The relationship between parents' oral hygiene knowledge and children with Down Syndrome's oral hygiene via OHI-S.

F1000Research
2022

Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.

Journal of clinical periodontology
2022

Identifying metabolic parameters related to severity and extent of periodontitis in down syndrome patients.

Journal of periodontal research
2022

Prevalence of Periodontitis among Patients Diagnosed with Marfan Syndrome: A Cross-Sectional Study Comparing Samples of Healthy Patients.

BioMed research international
2022

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.

Molecular neurobiology
2023

High-power laser as a treatment of recurrent gingival fibromatosis in a patient with a rare syndrome: A case report.

Photodermatology, photoimmunology &amp; photomedicine
2022

A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R.

The Journal of dermatology
2023

The PTEN hamartoma tumor syndrome: how oral clinicians may save lives.

Clinical advances in periodontics
2023

Oral health status and quality of life of the parental caregivers of children with Down syndrome: A case-control study.

Journal of intellectual disabilities : JOID
2022

The RASopathies: Biology, genetics and therapeutic options.

Advances in cancer research
2022

Caregiving of children with Down syndrome: impact on quality of life, stress, mental and oral health.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2021

Dental management of tricho-dento-osseous syndrome in adolescent patients: Literature review and case presentation.

Dental research journal
2022

Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.

In vivo (Athens, Greece)
2022

Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.

American journal of medical genetics. Part A
2021

Clinics and genetic background of hereditary gingival fibromatosis.

Orphanet journal of rare diseases
2022

Oral manifestations of congenital Zika virus infection in children with microcephaly: 18-month follow-up case series.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2021

Case Report: A Case of Hereditary Gingival Fibromatosis With a High Level of Human β Defensins in Gingival Epithelium.

Frontiers in immunology
2021

Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.

Frontiers in endocrinology
2021

Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome.

European journal of medical genetics
2021

Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene.

BMC oral health
2021

Histopathological and immunohistochemical changes of the marginal periodontium in patients with Turner syndrome.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2021

Oral Microbiota Features in Subjects with Down Syndrome and Periodontal Diseases: A Systematic Review.

International journal of molecular sciences
2021

Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.

Molecular genetics &amp; genomic medicine
2021

Novel Surgical Technique for Correction of Incomplete Median Cleft Lip Deformity in Oral-Facial-Digital Syndrome Type II.

The Journal of craniofacial surgery
2022

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Human genetics
2021

Dermatologic findings in individuals with genetically confirmed Proteus syndrome.

Pediatric dermatology
2021

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.

The application of clinical genetics
2021

Altered regulation of cell migration in IRF6-mutated orofacial cleft patients-derived primary cells reveals a novel role of Rho GTPases in cleft/lip palate development.

Cells &amp; development
2021

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.

In vivo (Athens, Greece)
2022

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.

Journal of medical genetics
2021

Oral Care in Kindler Syndrome: 7-Year Follow-up of 2 Brothers.

The Journal of clinical pediatric dentistry
2022

Peripheral odontogenic keratocyst: Clinicopathological and immunohistochemical characterization.

Oral diseases
2021

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

European journal of human genetics : EJHG
2021

Treatment of dental caries in a patient with Joubert syndrome without the use of sedatives: A case study.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2021

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.

Biomolecules
2021

Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.

Clinical dysmorphology
2021

Activated KCNQ1 channel promotes fibrogenic response in hereditary gingival fibromatosis via clustering and activation of Ras.

Journal of periodontal research
2020

Caregivers' Perception of Oral Health-Related Quality of Life of Individuals with Down Syndrome.

Journal of dentistry for children (Chicago, Ill.)
2021

Craniofacial phenotypes associated with Robinow syndrome.

American journal of medical genetics. Part A
2021

Periodontal disorders in a cohort of patients with Cohen syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2021

Hereditary gingival fibromatosis in children: a systematic review of the literature.

Clinical oral investigations
2020

A Rare Case of non Syndromic Congenital Idiopathic Gingival Fibromatosis: Electrosurgical Management.

The Journal of clinical pediatric dentistry
2020

Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.

The Journal of clinical pediatric dentistry
2021

Evaluation of oral characteristics and oral health of individuals with fragile X syndrome and related guardians perceptions.

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
2020

Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444).

Stem cell research
2021

Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.

Genetics in medicine : official journal of the American College of Medical Genetics
2021

Hereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene.

Oral surgery, oral medicine, oral pathology and oral radiology
2021

Atrophic violaceus pretibial plaques: when the clue is the oral mucosa.

Clinical and experimental dermatology
2020

Kindler Syndrome: A Multidisciplinary Management Approach.

Actas dermo-sifiliograficas
2020

Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.

European journal of medical genetics
2020

Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report.

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
2020

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

European journal of medical genetics
2020

"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

Advances in genetics
2020

Ascher Syndrome: Acquired Double Lower Lip Combined With Epulis Fissuratum.

The Journal of craniofacial surgery
2020

3D evaluation of tooth crown size ın unilateral cleft lip and palate patients.

Nigerian journal of clinical practice
2021

Syndromes with gingival fibromatosis: A systematic review.

Oral diseases
2020

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.

Molecular syndromology
2020

KBG syndrome in two patients from Egypt.

American journal of medical genetics. Part A
2020

Oral disorders in children with Prader-Willi syndrome: a case control study.

Orphanet journal of rare diseases
2020

A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.

Pediatric dermatology
2020

Impact of oral conditions of children/adolescents with Down syndrome on their families' quality of life.

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
2019

ORO-Dental Manifestations in West Syndrome.

Current topics in medicinal chemistry
2019

Does obstructive sleep apnea affect oral and periodontal health in children with down syndrome? A preliminary study.

Nigerian journal of clinical practice
2019

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

American journal of medical genetics. Part A
2019

Supernumerary teeth in a patient with Turner syndrome: An unusual finding.

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
2019

Oral Epidemiological Profile and Risk Factors in Adolescents with Different Degrees of Down Syndrome in a Vulnerable Peruvian Rural Population.

The journal of contemporary dental practice
2019

Gelatinolytic activity in gingival crevicular fluid and saliva of growing patients with Marfan syndrome: a case-control study.

BMC oral health
2019

Oral and dental findings in Bardet-Biedl syndrome: A case report.

Nigerian journal of clinical practice
2019

Association between Marfan syndrome and oral health status: A systematic review and meta-analysis.

Medicina oral, patologia oral y cirugia bucal
2019

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

American journal of human genetics
2019

Transcriptome analysis of gingival tissues of enamel-renal syndrome.

Journal of periodontal research
2019

Periodontal status of individuals with Down syndrome: sociodemographic, behavioural and family perception influence.

Journal of intellectual disability research : JIDR
2019

Exomic and transcriptomic alterations of hereditary gingival fibromatosis.

Oral diseases
2019

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

European journal of medical genetics
2018

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

American journal of human genetics
2018

Dental considerations and recommendations in Eisenmenger syndrome: A report of an unusual paediatric case.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2018

A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene.

Journal of clinical periodontology
2019

Oral findings in children and adolescents with Prader-Willi syndrome.

Clinical oral investigations
2018

Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.

American journal of medical genetics. Part A
2018

Possible association between obesity and periodontitis in patients with Down syndrome.

Medicina oral, patologia oral y cirugia bucal
2018

Enamel-Renal-Syndrome: case report.

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
2018

Surgical Management of Facial Features of Robinow Syndrome: A Case Report.

Open access Macedonian journal of medical sciences
2017

A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene.

Turk pediatri arsivi
2018

Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.

Nephron
2018

Congenital Synechia and Syngnathia: Two Case Reports.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2017

Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.

The Turkish journal of pediatrics
2018

Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome.

The International journal of prosthodontics
2017

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

Nature communications
2018

Homozygous mutation in ELMO2 may cause Ramon syndrome.

Clinical genetics
2018

The Effect of MMP-13, MMP-12, and AMBN on Gingival Enlargement and Root Deformation In a New Type of Gingival Fibromatosis.

The Journal of clinical pediatric dentistry
2017

Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome.

Indian journal of dental research : official publication of Indian Society for Dental Research
2017

Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.

Journal of clinical periodontology
2017

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

American journal of medical genetics. Part A
2016

[ORO-DENTO-FACIAL MANIFESTATIONS IN PATIENTS WITH FAMILIAL DYSAUTONOMIA].

Harefuah
2016

[THE EFFECT OF DOWN SYNDROME ON TEETH AND JAWS DEVELOPMENT - THE FIRST CASE REPORT ON DENTAL IMPLANTS WITH 15 YEARS FOLLOW-UP].

Harefuah
2017

Salivary secretory IgA concentration and dental caries in children with Down syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2017

Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2016

The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.

Neuro endocrinology letters
2017

Oro-dental characteristics of three siblings with Papillon-Lefevre syndrome.

Nigerian journal of clinical practice
2017

Dental care in patients with antiphospholipid syndrome: two case reports.

General dentistry
2017

Steinert syndrome and repercussions in dental medicine.

Archives of oral biology
2016

Preventative therapies and periodontal interventions for Down syndrome patients.

Evidence-based dentistry
2016

The Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report.

The New York state dental journal
2016

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

American journal of human genetics
2016

Salivary Periodontopathic Bacteria in Children and Adolescents with Down Syndrome.

PloS one
2016

Gingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence.

The American journal of case reports
2016

Ambras Syndrome with Gingival Hyperplasia: A Rare Entity.

International journal of trichology
2017

Oral healthcare management in Bardet Biedl syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2016

[Oral health status in children with intellectual disability living in organized groups].

Stomatologiia
2016

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

American journal of medical genetics. Part A
2016

Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series.

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

Genomic analysis of gum disease and hypertrichosis in foxes.

Genetics and molecular research : GMR
2016

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

BMC medical genetics
2016

Epilepsy in KCNH1-related syndromes.

Epileptic disorders : international epilepsy journal with videotape
2016

Sturge Weber Syndrome: An Unusual Case with Multisystem Manifestations.

Ethiopian journal of health sciences
2016

Ambras syndrome: A rare case report.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
2015

RARE CASE OF IDIOPATHIC GINGIVAL FIBROMATOSIS AFFECTING PRIMARY DENTITION.

Journal of Ayub Medical College, Abbottabad : JAMC
2015

Tuberous sclerosis: histological analysis with confocal laser scanning microscope of gingival angiofibromatosis.

Pathologica
2016

Gummy Smile and Short Tooth Syndrome--Part 1: Etiopathogenesis, Classification, and Diagnostic Guidelines.

Compendium of continuing education in dentistry (Jamesburg, N.J. : 1995)
2016

Dental Treatment Considerations for Children with Complex Medical Histories: A Case of Townes-Brock Syndrome.

The Journal of the Michigan Dental Association
2016

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Pediatric dermatology
2016

Gingival fibromatosis: clinical, molecular and therapeutic issues.

Orphanet journal of rare diseases
2016

FTO variant associated with malformation syndrome.

American journal of medical genetics. Part A
2016

[Neonatal mucolipidosis type II].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2016

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

American journal of medical genetics. Part A
2016

Recent advances in RASopathies.

Journal of human genetics

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de fibromatose gengival-dismorfia facial.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de fibromatose gengival-dismorfia facial

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

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. Multisystem manifestations of Sj&#xf6;gren-Larsson syndrome in early childhood and its dental implications.
    BMJ case reports· 2026· PMID 41825905mais citado
  2. FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.
    Cell proliferation· 2026· PMID 40693438mais citado
  3. Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.
    Clinical genetics· 2026· PMID 40605398mais citado
  4. Role of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery· 2026· PMID 41451697mais citado
  5. Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
    Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology· 2026· PMID 41290531mais citado
  6. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  7. Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.
    Orphanet J Rare Dis· 2026· PMID 41721348recente
  8. Correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease: a retrospective single-center study.
    Orphanet J Rare Dis· 2026· PMID 41652627recente
  9. Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.
    Orphanet J Rare Dis· 2026· PMID 41645214recente
  10. Gorham-Stout disease with thoracic involvement: pathogenic mechanisms, respiratory complications, and multimodal therapies.
    Orphanet J Rare Dis· 2026· PMID 41618413recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2025(Orphanet)
  2. OMIM OMIM:228560(OMIM)
  3. MONDO:0009228(MONDO)
  4. GARD:10528(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55781891(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

Compêndio · Raras BR

Síndrome de fibromatose gengival-dismorfia facial

ORPHA:2025 · MONDO:0009228
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1856761
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades