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Síndrome Fraser
ORPHA:2052CID-10 · Q87.0CID-11 · LD2H.0OMIM 219000DOENÇA RARA

A Síndrome de Fraser é uma doença rara que tem como principais características olhos que não se formam completamente e ficam cobertos pela pele, e dedos grudados.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Fraser é uma doença rara que tem como principais características olhos que não se formam completamente e ficam cobertos pela pele, e dedos grudados.

Publicações científicas
242 artigos
Último publicado: 2026 Mar 31

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

😀
Face
16 sintomas
🫃
Digestivo
11 sintomas
🫘
Rins
10 sintomas
🦴
Ossos e articulações
9 sintomas
👂
Ouvidos
9 sintomas
👁️
Olhos
7 sintomas

+ 46 sintomas em outras categorias

Características mais comuns

100%prev.
Pulmões fetais aumentados
Obrigatório (100%)
100%prev.
Criptoftalmia
Frequência: 2/2
100%prev.
Estenose laríngea
Frequência: 2/2
90%prev.
Ductos lacrimais malformados
Muito frequente (99-80%)
90%prev.
Sindactilia dos dedos
Muito frequente (99-80%)
90%prev.
Anormalidade do sistema urinário
Muito frequente (99-80%)
128sintomas
Muito frequente (10)
Frequente (31)
Ocasional (28)
Muito raro (3)
Sem dados (56)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 128 características clínicas mais associadas, ordenadas por frequência.

Pulmões fetais aumentadosEnlarged fetal lungs
Obrigatório (100%)100%
CriptoftalmiaCryptophthalmos
Frequência: 2/2100%
Estenose laríngeaLaryngeal stenosis
Frequência: 2/2100%
Ductos lacrimais malformadosMalformed lacrimal ducts
Muito frequente (99-80%)90%
Sindactilia dos dedosFinger syndactyly
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico242PubMed
Últimos 10 anos81publicações
Pico202111 papers
Linha do tempo
2026Hoje · 2026🧪 2002Primeiro 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

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

FREM2FRAS1-related extracellular matrix protein 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and the anterior segment of the eyeballs (PubMed:29688405, PubMed:30802441)

LOCALIZAÇÃO

Cell membrane

MECANISMO DE DOENÇA

Fraser syndrome 2

A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.

EXPRESSÃO TECIDUAL(Tecido-específico)
Tireoide
6.6 TPM
Nervo tibial
4.1 TPM
Rim - Medula
3.5 TPM
Rim - Córtex
3.2 TPM
Pâncreas
1.5 TPM
OUTRAS DOENÇAS (5)
isolated cryptophthalmiaFraser syndrome 2renal agenesis, unilateralcomplete cryptophthalmia
HGNC:25396UniProt:Q5SZK8
GRIP1Glutamate receptor-interacting protein 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity)

LOCALIZAÇÃO

Cytoplasmic vesiclePerikaryonCell projection, dendriteCytoplasmEndomembrane systemPostsynaptic cell membranePostsynaptic densityEndoplasmic reticulum membrane

VIAS BIOLÓGICAS (1)
Trafficking of GluR2-containing AMPA receptors
MECANISMO DE DOENÇA

Fraser syndrome 3

A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Not Sun Exposed Suprapubic
5.6 TPM
Skin Sun Exposed Lower leg
5.2 TPM
Pituitária
5.0 TPM
Testículo
4.7 TPM
Cólon sigmoide
4.5 TPM
OUTRAS DOENÇAS (2)
Fraser syndrome 3Fraser syndrome
HGNC:18708UniProt:Q9Y3R0
FRAS1Extracellular matrix organizing protein FRAS1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By similarity). Involved in brain organization and function (By similarity)

LOCALIZAÇÃO

Cell membrane

MECANISMO DE DOENÇA

Fraser syndrome 1

A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.

EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
15.0 TPM
Fibroblastos
11.0 TPM
Rim - Medula
5.7 TPM
Pulmão
5.1 TPM
Cólon sigmoide
4.8 TPM
OUTRAS DOENÇAS (3)
Fraser syndrome 1Fraser syndromerenal agenesis, unilateral
HGNC:19185UniProt:Q86XX4

Variantes genéticas (ClinVar)

798 variantes patogênicas registradas no ClinVar.

🧬 FREM2: NM_207361.6(FREM2):c.2383_2387del (p.Val795fs) ()
🧬 FREM2: NM_207361.6(FREM2):c.2180_2183dup (p.Tyr728Ter) ()
🧬 FREM2: NM_207361.6(FREM2):c.5812del (p.Asp1938fs) ()
🧬 FREM2: NM_207361.6(FREM2):c.626del (p.Phe209fs) ()
🧬 FREM2: NM_207361.6(FREM2):c.5976del (p.Glu1992fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 2,243 variantes classificadas pelo ClinVar.

1346
897
Patogênica (60.0%)
VUS (40.0%)
VARIANTES MAIS SIGNIFICATIVAS
FRAS1: NM_025074.7(FRAS1):c.5284_5285del (p.Leu1762fs) [Pathogenic]
FRAS1: NM_025074.7(FRAS1):c.469+5G>C [Likely pathogenic]
FREM2: NM_207361.6(FREM2):c.6257del (p.Asp2086fs) [Likely pathogenic]
FRAS1: NM_025074.7(FRAS1):c.3578del (p.Phe1193fs) [Likely pathogenic]
FRAS1: NM_025074.7(FRAS1):c.8981dup (p.His2995fs) [Likely pathogenic]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

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 Fraser

🗺️

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

1 ensaios clínicos encontrados.

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

Timeline de publicações
79 papers (10 anos)
#1

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Ophthalmic genetics2026 Mar 08

Anophthalmia and microphthalmia (A/M) are among the most severe developmental eye defects. The aim of this study is to describe the genetic landscape of fetal syndromic phenotypes that include A/M. We recruited 31 fetuses who underwent prenatal ultrasound examination, postnatal assessment, quantitative fluorescent PCR (QF-PCR) and prenatal exome sequencing (pES). All cases displayed A/M associated with at least one extra-ocular malformation and of these, cerebellar hypoplasia was the most common ultrasound finding, detected in 14 (45.2%) cases. Chromosomal aneuploidies were identified in seven cases. Among the other fetuses (n=24), pES identified single nucleotide variants (SNVs) in 21 and copy number variations (CNVs) in three. Recurrent genetic diagnoses within our cohort included muscular dystrophy-dystroglycanopathy type A-3 (MDDGA3; n=3), MDDGA1 (n=2), cerebro-oculo-facio-skeletal syndrome 3 (n=2), syndromic microphthalmia type 9 (n=2), and Fraser syndrome (n=2). We report on seven novel variants. This study broadens the molecular spectrum of syndromic A/M with 19 distinct variants identified across 16 different genes. Furthermore, some variants were detected in genes that have been rarely, or not previously, linked to human A/M, thereby highlighting atypical clinical findings and suggesting a possible expansion of the phenotypic spectrum associated with these genes.

#2

MOTA syndrome diagnosis following unexpected neonatal death.

BMJ case reports2025 Oct 05

The Manitoba Oculo-Tricho-Anal (MOTA) syndrome was first described in 1992. MOTA syndrome is a rare syndrome. MOTA syndrome has a clear genetic autosomal recessive inheritance pattern. The MOTA syndrome is related to FRAS1 (Fraser extracellular matrix complex subunit 1) related extracellular matrix 1 (FREM1) gene mutation, which can also cause genitourinary defects (including renal agenesis), nasal abnormalities and anorectal abnormalities. In our case, a pregnant woman whose fetus had been diagnosed during a routine mid-trimester ultrasound scan with unilateral renal agenesis and no other structural abnormalities delivered at 39 weeks by elective caesarean section. Unfortunately, the baby died shortly after delivery due to failed intubation. On post-mortem genetic analysis using whole genome sequencing, MOTA syndrome was diagnosed. Previous reports suggested that FREM1 mutations may contribute to upper airway malformations. This case highlights the need for genetic analysis to diagnose MOTA syndrome.

#3

Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene.

Frontiers in medicine2025

Fraser syndrome (FS) is an autosomal recessive inherited malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tracts. Variants in the FRAS1-related extracellular matrix 2 (FREM2) gene are the major genetic cause. However, clinical diagnosis remains challenging due to phenotypic heterogeneity. A 24-week pregnant woman came to our hospital for genetic diagnosis. Ultrasound examination showed bilateral renal agenesis or dysplasia, absence of the bladder, and almost oligohydramnios. Trio whole-exome sequencing (Trio-WES) identified two novel compound heterozygous variants in the fetal FREM2 gene: a maternal, frameshift variant, c.5908_5909del, p.Leu1970ValfsTer33, and a paternal, nonsense variant, c.7881C>G,p.Tyr2627Ter. We report a rare case of Fraser syndrome 2 caused by compound heterozygous mutations in the FREM2 gene. Our findings expanded the FREM2 genotypic spectrum and demonstrated the significance of Trio-WES in the prenatal diagnosis of recessive disorders.

#4

Prenatal Diagnosis of Fraser Syndrome at 20 Weeks' Gestation: A Case Report and Review of Literature.

Cureus2025 Nov

Fraser syndrome is a rare congenital multisystem disorder, characterised by cryptophthalmos, syndactyly, and urogenital/renal anomalies, with high perinatal mortality. We report a pregnancy in which multiple severe fetal anomalies were identified at the routine anomaly scan (20 + 4 weeks' gestation), including central nervous system, craniofacial, renal, and limb findings highly suggestive of Fraser syndrome. The mother declined invasive testing and postmortem examination. Following multidisciplinary counselling regarding prognosis and options, the patient opted for medical termination of pregnancy. She experienced an allergic reaction to mifepristone and was managed with a misoprostol-based regimen. A stillborn female infant was delivered; the mother required a transfusion for postpartum haemorrhage due to retained placenta. Suspicion of Fraser syndrome on prenatal ultrasound should prompt multidisciplinary input and offer of genetic counselling. Where molecular or postmortem confirmation is not available, diagnosis may remain presumptive, but anticipatory counselling regarding poor prognosis and recurrence risk is essential.

#5

Buffering of genetic defects in animal development by regeneration programs.

bioRxiv : the preprint server for biology2025 Oct 26

Regeneration programs enable animals to restore damaged or lost tissues, and the range of stimuli for these programs is incompletely understood. Here, we used zebrafish, a vertebrate species with exceptional regenerative capacity, to identify chemically induced mutations that alter regeneration-associated gene activation. Transgenic zebrafish with a permissive promoter and EGFP cassette inserted in the vicinity of the pro-regenerative factor gene fgf20a were mutagenized, and larvae homozygous for ENU-induced mutations were assessed for disruptions in fgf20a-directed reporter gene expression following fin fold amputation. One line was identified with heritable, elevated fgf20a:EGFP presence in the absence of experimental injury, localized to regions of fin fold tissue undergoing degeneration. Whole-genome sequencing (WGS) identified a mutation within exon 72 of the fraser syndrome 1 (fras1) gene, mutated in patients with inherited skin disease. fras1 mutant larvae spontaneously displayed elevated expression of other known injury/regeneration-responsive reporter lines in fin fold, and zebrafish crispants for homologs of other genes mutated in human developmental diseases also displayed regeneration-associated gene expression in regions of dysmorphology. Tempering Fgf signaling by transgenic expression of a dominant-negative Fgf receptor in fras1 mutants exacerbated the disease phenotype. Our findings provide evidence that regeneration programs are harnessed in response to developmental defects caused by genetic mutations, potentially buffering deleterious phenotypes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC157 artigos no totalmostrando 79

2026

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Ophthalmic genetics
2025

Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene.

Frontiers in medicine
2025

Prenatal Diagnosis of Fraser Syndrome at 20 Weeks' Gestation: A Case Report and Review of Literature.

Cureus
2025

Buffering of genetic defects in animal development by regeneration programs.

bioRxiv : the preprint server for biology
2025

MOTA syndrome diagnosis following unexpected neonatal death.

BMJ case reports
2025

Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis.

Scientific reports
2025

Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research.

Diagnostics (Basel, Switzerland)
2025

[Effect of acupuncture on early embryos in poor ovarian response mice based on transcriptome sequencing].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2025

Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.

Prenatal diagnosis
2024

Fraser syndrome with limb reduction defect: a rare and unique anatomic variation.

Surgical and radiologic anatomy : SRA
2024

[About a case of Fraser syndrome. Autopsy of a 37 weeks gestation fetus with multiple malformations].

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2023

Cryptophthalmos: associated syndromes and genetic disorders.

Ophthalmic genetics
2023

The Fraser complex interconnects tissue layers to support basal epidermis and osteoblast integrated morphogenesis underlying fin skeletal patterning.

bioRxiv : the preprint server for biology
2023

Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2.

BMJ case reports
2023

The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal-Epidermal Junction of Mouse Skin.

International journal of molecular sciences
2023

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.

Diagnostics (Basel, Switzerland)
2022

Oral and Craniofacial Anomalies of Fraser Syndrome:Prosthetic Management.

Kathmandu University medical journal (KUMJ)
2023

Prenatal hydrometrocolpos as an unusual finding in Fraser syndrome. Case report.

Case reports in perinatal medicine
2022

Fraser Syndrome: A Stumbling Block for the Anaesthesiologist.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2023

FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies.

European journal of medical genetics
2022

Comprehensive analysis of FRAS1/FREM family as potential biomarkers and therapeutic targets in renal clear cell carcinoma.

Frontiers in pharmacology
2023

"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome.

European journal of human genetics : EJHG
2021

Bilateral Cryptophthalmus: First Case Report from Nepal.

Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH
2022

A Rare Case of Fraser Syndrome with Partial Vaginal Agenesis and Its Successful Reconstructive Cosmetic Management: A Case Report.

Journal of obstetrics and gynaecology of India
2022

Clinical features and orbital anomalies in Fraser syndrome and a review of management options.

Indian journal of ophthalmology
2022

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.

Indian journal of ophthalmology
2022

Anchoring Cords: A Distinct Suprastructure in the Developing Skin.

The Journal of investigative dermatology
2022

Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome.

Taiwanese journal of obstetrics &amp; gynecology
2022

[Bilateral anophthalmia in Fraser syndrome: A case report].

Journal francais d'ophtalmologie
2022

A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1.

Taiwanese journal of obstetrics &amp; gynecology
2021

Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping.

Aging
2021

Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM.

Biomedicines
2021

Human disease-associated extracellular matrix orthologs ECM3 and QBRICK regulate primary mesenchymal cell migration in sea urchin embryos.

Experimental animals
2021

Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.

Molecular genetics &amp; genomic medicine
2021

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.

American journal of medical genetics. Part A
2021

[Congenital high airway obstruction syndrome (CHAOS): a case report].

The Pan African medical journal
2020

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Human genome variation
2021

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Clinical dysmorphology
2021

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

Journal of nephrology
2020

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.

BMC pregnancy and childbirth
2020

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

American journal of medical genetics. Part A
2021

Behavioural effects of extracellular matrix protein Fras1 depletion in the mouse.

The European journal of neuroscience
2020

Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.

Prenatal diagnosis
2021

Transgene-mediated skeletal phenotypic variation in zebrafish.

Journal of fish biology
2020

Anesthetic management of Fraser syndrome-Check laryngoscopy can help!

Paediatric anaesthesia
2020

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

American journal of medical genetics. Part A
2020

Fraser syndrome: review of the literature illustrated by a historical adult case.

International journal of oral and maxillofacial surgery
2020

Fraser syndrome without cryptophthalmos: Two cases.

European journal of medical genetics
2020

The monster of Ascheraden: A description of syndromic cryptophthalmos by poet Daniel Hermann in "De monstroso partu…" published in Riga, 1596.

Birth defects research
2020

Genetic mutation of Frem3 does not causeFraser syndrome in mice.

Experimental animals
2019

Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report.

BMC pediatrics
2019

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics.

Nature communications
2019

Loss-of-function mutations in FREM2 disrupt eye morphogenesis.

Experimental eye research
2018

[Fraser syndrome: Case report].

Journal francais d'ophtalmologie
2018

Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review.

Allergy &amp; rhinology (Providence, R.I.)
2018

Oral manifestations and rehabilitation in Fraser syndrome: A 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

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Human molecular genetics
2018

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Human molecular genetics
2018

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.

PloS one
2018

Lacrimal Drainage Anomalies in Fraser Syndrome.

Ophthalmic plastic and reconstructive surgery
2017

Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.

BMC urology
2017

Oral healthcare in Fraser 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

Locating the Level and Extent of Congenital High Airway Obstruction: Fluid in the Airway Tract as Reference Points.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2016

Isolated Bilateral Complete Cryptophthalmos.

Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH
2016

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

Prenatal diagnosis
2017

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

Congenital anomalies
2017

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

Congenital anomalies
2016

Fraser Syndrome - a Case Report and Review of Literature.

Maedica
2016

Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.

Developmental dynamics : an official publication of the American Association of Anatomists
2015

Prenatal diagnosis of Fraser syndrome: a matter of life or death?

Italian journal of pediatrics
2016

Mesenchymal expression of the FRAS1/FREM2 gene unit is decreased in the developing fetal diaphragm of nitrofen-induced congenital diaphragmatic hernia.

Pediatric surgery international
2015

Establishment of proprotein convertase, furinA knocked-out lines in medaka, Oryzias latipes, and unique form of medaka furin-like prorprotein convertase (mflPC).

Comparative biochemistry and physiology. Toxicology &amp; pharmacology : CBP
2015

Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature.

International journal of pediatric otorhinolaryngology
2015

Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome.

The Journal of craniofacial surgery
2015

A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.

Genetic counseling (Geneva, Switzerland)
2015

[Bilateral cryptophthalmos in Fraser syndrome: Case report and review of the literature].

Journal francais d'ophtalmologie
2017

Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome.

Ophthalmic plastic and reconstructive surgery
2015

The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas.

Eye (London, England)
2014

Fraser syndrome-oral manifestations and a dental care protocol.

Case reports in dentistry
Ver todos os 157 no EuropePMC

Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.
    Ophthalmic genetics· 2026· PMID 41795876mais citado
  2. MOTA syndrome diagnosis following unexpected neonatal death.
    BMJ case reports· 2025· PMID 41052809mais citado
  3. Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene.
    Frontiers in medicine· 2025· PMID 41426592mais citado
  4. Prenatal Diagnosis of Fraser Syndrome at 20 Weeks' Gestation: A Case Report and Review of Literature.
    Cureus· 2025· PMID 41399579mais citado
  5. Buffering of genetic defects in animal development by regeneration programs.
    bioRxiv : the preprint server for biology· 2025· PMID 41280100mais citado
  6. Recurrent abdominal pain as a leading symptom for branchio-oto-renal syndrome: a case report.
    J Med Case Rep· 2026· PMID 41917973recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2052(Orphanet)
  2. MONDO:0009046(MONDO)
  3. GARD:6465(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q1425572(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 Fraser
Compêndio · Raras BR

Síndrome Fraser

ORPHA:2052 · MONDO:0009046
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
CID-11
OMIM
OMIM:219000
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0265233
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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