A síndrome de Stickler é uma vitreorretinopatia hereditária caracterizada pela associação de sinais oculares com formas mais ou menos completas da sequência de Pierre-Robin, distúrbios ósseos e surdez neurossensorial (10% dos casos).
Introdução
O que você precisa saber de cara
A síndrome de Stickler é uma vitreorretinopatia hereditária caracterizada pela associação de sinais oculares com formas mais ou menos completas da sequência de Pierre-Robin, distúrbios ósseos e surdez neurossensorial (10% dos casos).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 130 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:25868050, PubMed:800600
Secreted, extracellular space, extracellular matrix
Microphthalmia, syndromic, 6
A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Structural component of hyaline cartilage and vitreous of the eye
Secreted, extracellular space, extracellular matrix
Multiple epiphyseal dysplasia 6
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Structural component of hyaline cartilage and vitreous of the eye
Secreted, extracellular space, extracellular matrix
Multiple epiphyseal dysplasia 2
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces
Secreted, extracellular space, extracellular matrix
Spondyloepiphyseal dysplasia congenital type
Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils
Secreted, extracellular space, extracellular matrix
Stickler syndrome 2
An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.
Structural component of hyaline cartilage and vitreous of the eye
Secreted, extracellular space, extracellular matrix
Multiple epiphyseal dysplasia 3
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Variantes genéticas (ClinVar)
491 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 760 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
24 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Stickler
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
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
6 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis underwent next-generation sequencing. Parental testing was performed to assess inheritance. It was confirmed that autosomal dominant Stickler syndrome type I (ORPHA:90653) was caused by a heterozygous pathogenic frameshift variant in COL2A1 (c.3137del) that was inherited from the mother and identified in the fetus. Micrognathia was identified during prenatal ultrasound, and postnatal evaluation revealed characteristics that were consistent with Pierre Robin sequence and connective tissue involvement. The molecular discoveries elucidated the observed phenotype and facilitated multidisciplinary perinatal management. This case underscores the indispensable function of molecular diagnostics in the prenatal identification of monogenic disorders, including Stickler syndrome, in cases where conventional karyotyping is inadequate. Targeted clinical surveillance and family counseling are facilitated by early genetic confirmation. The report also emphasizes the necessity of incorporating molecular diagnostics into routine prenatal care for rare genetic diseases and the systemic limitations in access to genomic testing. Although the identified variant has been previously reported, this case highlights the clinical and diagnostic value of prenatal molecular confirmation in a resource-limited healthcare setting.
Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
Stickler syndrome is a collection of hereditary conditions that impact connective tissue, mainly collagen, and can cause a variety of symptoms, such as joint and bone abnormalities, hearing loss, and visual impairments. Previous studies suggest that mutations in the collagen-encoding genes are a primary cause of SS. These mutations can be inherited from parents to offspring and may vary significantly in terms of severity and symptoms. Besides these mutations, the complex genetic maze underlying SS remains poorly understood, limiting the development of targeted therapeutic and biomarker options. In this study we aimed to identify key genes and molecular pathways potentially involved in SS using bioinformatics approaches, and to explore putative therapeutic directions. In our text mining analysis, we identified 24 distinct genes associated with SS in Homo sapiens, out of which 22 were chosen as candidate genes for enrichment analysis, based on their Gene Ontology (GO) annotations and participation in pertinent biological pathways. Cytoscape-based construction of the protein-protein interaction network revealed a single functional module comprising 22 nodes and 46 edges, from which nine hub genes were identified. Enrichment analysis demonstrated that these genes were predominantly involved in extracellular matrix organization, collagen fibril organization, skeletal system development, and extracellular structural organization, all of which play a critical role in the pathogenesis of SS. Furthermore, drug-gene interaction analysis suggested six of the nine hub genes may be linked to FDA-approved compounds. Our results provide a systematic framework for prioritizing genes and pathways which may pave the way for future studies aimed at biomarker discovery and therapeutic exploration in SS.
Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.
Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.
Type II, IX and XI collagenopathies encompass Stickler syndrome and a spectrum of related connective tissue disorders with diverse and overlapping phenotypes. This study evaluated outcomes of commercial gene panels to understand how genetic testing was used in these collagenopathies. A retrospective review was undertaken of genetic tests including genes COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 from a clinical diagnostic laboratory. Cases harbouring pathogenic/likely pathogenic (P/LP) variants were categorised by the ordering panel. Indications for testing were classified into ocular, orofacial, auditory, musculoskeletal, cardiovascular or other symptoms/signs. Between February 2020 and May 2024, 7798 diagnostic panels were ordered containing the six collagen genes of interest, with 214 unique cases reporting at least one P/LP variant. Overall, Stickler syndrome was the main indication for testing in 48% of cases. Family history and ocular signs were the most common indications in Stickler syndrome genetic testing, while musculoskeletal and neurological/developmental signs more frequently prompted testing with other panel types. The diagnostic yield of Stickler syndrome panels was 50%, with a higher rate among cases reporting a family history (OR: 2.6 (95% CI 1.3 to 5.4); p=0.005) or presenting with ocular signs (OR: 2.2 (95% CI 1.1 to 4.5), p=0.03). Stickler syndrome is the primary indication for half of the genetic tests ordered for type II, IX and XI collagenopathies, yet accurate diagnosis remains challenging due to overlapping collagenopathy phenotypes. Diagnosis and management could be enhanced through comprehensive documentation of multisystem signs, identification of syndrome-specific features and multidisciplinary care approaches.
Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
Stickler syndrome (SS) is the leading cause of hereditary retinal detachment (RD) in children and is characterized by ophthalmic, auditory, orofacial, and articular abnormalities. Vision loss often results from retinal events (RE), including retinal tears and detachments. To identify clinical and genetic risk factors for retinal events in patients with SS, to guide screening and preventive care. This retrospective cohort study included 78 patients with clinically or genetically confirmed SS seen at the University Medical Center Utrecht between 2000 and 2019. Predictors included family history of SS, presence of a COL2A1 pathogenic variant, and degree of myopia. The primary outcome was occurrence of a retinal event, defined as a retinal tear or detachment confirmed by an ophthalmologist. Covariates were age, sex, Pierre Robin sequence, refractive error, retinopathy, hearing problems, joint problems, and cleft palate. Descriptive statistics, univariate analyses, and multivariate Kaplan-Meier survival models with multiple imputation and Firth's correction were used. Nineteen of 78 patients (24%) developed at least one retinal event at a median age of 14 years. Multivariate analysis revealed that a positive family history of SS (HR 5.53, 95% CI 1.42-21.55), COL2A1 pathogenic variant (HR 3.59, 95% CI 1.00-12.82), and greater myopic refractive error (HR 0.86, 95% CI 0.74-0.99) were significantly associated with increased RE risk. A positive family history, COL2A1 mutation, and higher myopia independently predict retinal events in Stickler syndrome. Regular ophthalmologic screening is recommended for younger and high-risk patients, while education on early symptoms of retinal detachment is essential for older children and adults.
Publicações recentes
Pathologic myopia as a concurrent condition in Pierre Robin sequence: a case report and literature review.
Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Nebular Cortical Cataract in Stickler Syndrome.
Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
📚 EuropePMC355 artigos no totalmostrando 197
Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.
Journal of medical geneticsPrenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
International journal of molecular sciencesNebular Cortical Cataract in Stickler Syndrome.
OphthalmologyRetinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
JPRAS openMorphometric Findings in Adolescents with Robin Sequence: A Photographic and Cephalometric Study of the Face and Mandible.
Children (Basel, Switzerland)Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
PloS oneEarly-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
The American journal of case reportsRE: Camp DA, Bakhsh SR, Torkashvand A, et al. Laser prophylaxis for retinal detachment in Stickler syndrome: A systematic review and meta-analysis. Acta Ophthalmologica. 2025 May 15. doi: 10.1111/aos.17509. Epub ahead of print. PMID: 40370211.
Acta ophthalmologicaWedge-Shaped Lamellar Cataract in Stickler Syndrome Type I.
Journal of cataract and refractive surgeryPaediatric Retinal Detachment in a Patient With Coexistent Stickler and Noonan Syndromes: The Importance of a Multidisciplinary Approach.
CureusPostoperative Corneal Dellen Following PreserFlo MicroShunt: A Case Report.
The American journal of case reportsPaediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.
Case reports in ophthalmologyManagement and Outcomes of Glaucoma in Children with Stickler Syndrome.
Ophthalmology. GlaucomaImmediate sequential bilateral retinal detachment repair in a patient with suspected COL2A1 and APC mutations.
Journal of vitreoretinal diseasesStickler syndrome type III: a rare case of early-onset osteoarthritis and hearing loss.
Scandinavian journal of rheumatologyCatch-Up Growth in Syndromic Robin Sequence: A Systematic Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAxial length, myopia progression, and myopic maculopathy in Stickler syndrome.
Acta ophthalmologicaCan Laser Retinopexy Prevent Retinal Detachment in Asymptomatic, High-Risk Eyes?
Clinical ophthalmology (Auckland, N.Z.)Commentary on "The oral and maxillofacial manifestations of stickler syndrome: A systematic review".
Journal of stomatology, oral and maxillofacial surgeryRhegmatogenous Retinal Detachment in Stickler Syndrome: A Systematic Review and Meta-Analysis.
Ophthalmology. RetinaIdiopathic Sclerochoroidal Calcification With a Concurrent COL11A2 Variant: A Case Report.
CureusCharacterizing Differences in Polysomnography Data for Children With Robin Sequence Undergoing Conservative and Surgical Management.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryThree New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Clinical geneticsA novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome.
Frontiers in geneticsWhat Factors Affect Safe Bedside Extubation After Mandibular Distraction?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExploring stickler syndrome through a familial case: Beyond Robin sequence.
Pediatrics and neonatologyGenotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.
American journal of ophthalmologyNovel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay.
Frontiers in genetics3D bioprinting for stickler syndrome: a transformative approach to early-onset joint degeneration.
Annals of medicine and surgery (2012)Psychosocial aspects, chronic pain, fatigue and quality of life in individuals with Stickler syndrome: a scoping review and a cross-sectional questionnaire study.
Disability and rehabilitationCognitive and Behavioral Characteristics of Children with Robin Sequence Associated with Stickler Syndrome: A Case Series.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationFinding Stickler Syndrome Among Perthes Disease.
Journal of pediatric orthopedicsRelative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis.
Ophthalmology. Retina[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCharacteristics of Hearing Loss in Patients with COL2A1 Gene Variants (Sticker Syndrome Type 1).
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaGenetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
GenesDistal Tibial Slipped Epiphysis in Stickler Syndrome: A Case Report.
JBJS case connector[Clinical characteristics and surgical outcomes of pediatric retinal detachment associated with Stickler syndrome].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyA Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.
Annals of plastic surgeryGenetic Variants in Rare Ophthalmological Syndromes: Novel COL11A1 Splice Site Variant in a Brazilian Family with Stickler Syndrome Type 2.
Journal of current ophthalmologyDiagnosis of congenital ectopia lentis: a case report and review of the literature.
Journal of medical case reportsFirst-trimester Diagnosis of Micrognathia as a Presentation of Stickler Syndrome.
Journal of medical ultrasoundPaediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes.
BMJ open ophthalmologyLoxl3 Affects Palatal Shelf Elevation by Regulating Cell Proliferation and Collagen Deposition.
International journal of molecular sciencesSyndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
Molecular visionLaser prophylaxis for retinal detachment in Stickler syndrome: A systematic review and meta-analysis.
Acta ophthalmologicaGenetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.
Frontiers in geneticsMyopia progression in children with Stickler syndrome: a longitudinal cohort study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusEvaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.
Journal of research in medical sciences : the official journal of Isfahan University of Medical SciencesReliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.
Human genomicsWhole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Scientific reportsStickler syndrome: associated musculoskeletal manifestations and first population-based incidence.
Journal of pediatric orthopedics. Part BAn Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report.
Case reports in ophthalmologyThe oral and maxillofacial manifestations of Stickler syndrome: A systematic review.
Journal of stomatology, oral and maxillofacial surgeryHereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management.
Clinical & experimental ophthalmologyUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet journal of rare diseasesRISK FACTORS FOR PROLIFERATIVE VITREORETINOPATHY IN A LARGE CLINICAL DATABASE.
Retina (Philadelphia, Pa.)COL2A1 Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.
Journal of vitreoretinal diseasesOphthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.
Ophthalmology. RetinaRhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes.
GenesElevated intraocular pressure in a child with Stickler syndrome after scleral buckle surgery for retinal detachment.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusComparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
The application of clinical geneticsRole of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.
Orthodontics & craniofacial researchRecurrent retinal detachment in Stickler Syndrome.
Eye (London, England)Retinal detachment in Type IX collagen recessive Stickler syndrome.
Eye (London, England)Pathobiology of the crystalline lens in Stickler syndrome.
Progress in retinal and eye researchEvolution of Vitreous Separation following Prophylactic Buckle in Stickler Syndrome.
OphthalmologyIdentification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I.
Frontiers in geneticsNovel LOXL3-associated stickler syndrome-like phenotype: a case report.
Ophthalmic geneticsPosterior Precortical Vitreous Pocket in Stickler Syndrome: A Report of Two Cases.
CureusA Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
Journal of pediatric ophthalmology and strabismusVitreopapillary Traction in Stickler Type IV COL9A1.
JAMA ophthalmologyNonperfusion of the Far Peripheral Retina in Highly Myopic Stickler Syndrome.
Journal of vitreoretinal diseasesPeripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.
Ophthalmology. RetinaClinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals.
Journal of multidisciplinary healthcareUnraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.
Advances in rheumatology (London, England)Retinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature.
Frontiers in medicineUtilization of Anti-obesity Medications After Bariatric Surgery: Analysis of a Large National Database.
Obesity surgery[Features of genetic mutations in children with high myopia combined with peripheral retinal degenerations].
Vestnik oftalmologiiSyndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler Syndrome.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India[Spontaneously reattached bilateral retinal detachment in Stickler syndrome].
Journal francais d'ophtalmologieOutcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieMicrophthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.
Ophthalmic geneticsAnesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report.
CureusThe molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.
BoneClinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Journal of translational medicineManagement of an Anticipated Difficult Airway in a Pediatric Patient With Stickler Syndrome.
CureusMultiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
PloS oneExome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.
Molecular genetics & genomic medicineOphthalmic manifestations of Czech dysplasia.
American journal of medical genetics. Part AAxial length shortening in myopic children with Stickler syndrome after repeated low-level red-light therapy.
International journal of ophthalmologyA patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics.
American journal of ophthalmology case reportsDevelopmental outcome of children with Robin sequence treated with the current Paris protocol.
Acta paediatrica (Oslo, Norway : 1992)Pattern of choroidal thickness in early-onset high myopia.
Frontiers in medicineAssociated anomalies in Pierre Robin sequence.
American journal of medical genetics. Part AEpidemiology of Robin sequence in the UK and Ireland: an active surveillance study.
Archives of disease in childhoodOutcomes in Retinal Detachment Repair and Laser Prophylaxis for Syndromes with Optically Empty Vitreous.
Ophthalmology. RetinaCase report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2.
Frontiers in geneticsMultidisciplinary approach to inherited causes of dual sensory impairment.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieStreptococcal pyomyositis in asplenia and underlying connective tissue disease.
Proceedings (Baylor University. Medical Center)Preventing Retinal Detachment: The Encircling Laser Retinopexy Technique.
Clinical ophthalmology (Auckland, N.Z.)Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.
GenesUse of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.
European journal of ophthalmologyCambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome.
The New England journal of medicineKnobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina.
Ophthalmic geneticsVitreoretinopathy-Associated Pediatric Retinal Detachment Treatment Outcomes: IRIS® Registry (Intelligent Research in Sight) Analysis.
Ophthalmology scienceThe Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.
Investigative ophthalmology & visual scienceLegg-Calve-Perthes' disease: an opportunity to prevent blindness?
Archives of disease in childhoodRetinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatric Retinal Specialist Treatment Preferences.
Ophthalmic surgery, lasers & imaging retinaLEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.
Retina (Philadelphia, Pa.)Mutation survey in Taiwanese patients with Stickler syndrome.
Taiwan journal of ophthalmologyOcular Manifestations in Patients with Sensorineural Hearing Loss.
Journal of ophthalmic & vision researchWindow of Susceptibility to Acute Otitis Media Infection.
PediatricsProgressive degeneration of the retina in Loxl3 mutant mouse model of Stickler syndrome.
Developmental biologyLong-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologiePreventing Retinal Detachment: Where are We? Implications from Stickler Syndrome.
Clinical ophthalmology (Auckland, N.Z.)Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study.
Children (Basel, Switzerland)Biometric Variations in High Myopia Associated with Different Underlying Ocular and Genetic Conditions.
Ophthalmology scienceSudden Refusal to Walk in a Child with Stickler Syndrome.
Pediatrics in reviewThe Incidence of Velopharyngeal Insufficiency in Stickler Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationChiari I Malformations and the Heritable Disorders of Connective Tissue.
Neurosurgery clinics of North AmericaMultimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease.
Ophthalmic surgery, lasers & imaging retinaSyndromes associated with Robin sequence: a national prospective cohort study.
Archives of disease in childhoodZebrafish Model of Stickler Syndrome Suggests a Role for Col2a1a in the Neural Crest during Early Eye Development.
Journal of developmental biologyThe Shape of the Jaw-Zebrafish Col11a1a Regulates Meckel's Cartilage Morphogenesis and Mineralization.
Journal of developmental biologyLASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.
Retina (Philadelphia, Pa.)Hearing Loss in Stickler Syndrome: An Update.
GenesRetinal Detachments in Stickler Syndrome.
Ophthalmic surgery, lasers & imaging retinaRecognizing medical child abuse in children presenting with chronic pain.
British journal of painQuality of Life in Children and Adolescents with Stickler Syndrome in Spain.
Children (Basel, Switzerland)CHRONIC PEDIATRIC RETINAL DETACHMENT WITH MULTIPLE MACROCYSTS.
Retinal cases & brief reportsAssociation of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.
Ophthalmic geneticsPrevention of Blindness in Stickler Syndrome.
GenesAutosomal Recessive Stickler Syndrome.
GenesPhacolytic Glaucoma in an Adult with Stickler Syndrome.
Ophthalmology. GlaucomaTrampoline Use and Retinal Detachment in Stickler Syndrome.
Case reports in ophthalmology[Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGenetic testing in four Indian families with suspected Stickler syndrome.
Indian journal of ophthalmologyDominant Stickler Syndrome.
GenesSurgical treatment of femoroacetabular impingement in a patient with Stickler syndrome: a case report.
Annals of translational medicineSevere foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.
Ophthalmic geneticsPreventing Retinal Detachment in Patients with Stickler Syndrome: The Effects of Preemptive Laser Photocoagulation.
Ophthalmology. RetinaIdentification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Orphanet journal of rare diseasesSpontaneous lens resorption in a patient with Marshall-Stickler Syndrome and glaucoma.
American journal of ophthalmology case reportsA Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.
Journal of cellular and molecular medicineClinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
GenesPrecision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
GenesRisk and Prevention of Retinal Detachments in Patients with Stickler Syndrome.
Ophthalmic surgery, lasers & imaging retinaGenetic background in late-onset sensorineural hearing loss patients.
Journal of human geneticsLaser Prophylaxis in Patients with Stickler Syndrome.
Ophthalmology. RetinaGenetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
GenesQuality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
Orphanet journal of rare diseasesStickler syndrome - lessons from a national cohort.
Eye (London, England)Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.
GenesTHE PROPHYLAXIS OF FELLOW-EYE RETINAL DETACHMENT IN STICKLER SYNDROME: A RETROSPECTIVE SERIES.
Retina (Philadelphia, Pa.)Hypoplasic Vitreous in Stickler Syndrome.
JAMA ophthalmologyControversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue.
Journal of clinical medicineNovel Mutation in the COL11A1 Gene Causing Marshall-Stickler Syndrome in Three Generations of a Bulgarian Family.
Balkan journal of medical genetics : BJMGCase report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
Molecular genetics & genomic medicinePleiotropy of a Stickler syndrome genotype.
European journal of ophthalmologyCleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
American journal of medical genetics. Part AClinical phenocopies of albinism.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusHearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationTargeted Deletion of Loxl3 by Col2a1-Cre Leads to Progressive Hearing Loss.
Frontiers in cell and developmental biologyIncidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1.
International journal of pediatric otorhinolaryngologyFAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.
Retinal cases & brief reportsGenetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Molecular genetics & genomic medicineChallenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report.
JBJS case connectorA novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.
Taiwanese journal of obstetrics & gynecologyGeneration and characterization of human induced pluripotent stem cells line JLUEYEi001-A from a 45 year old female with Stickler syndrome.
Stem cell researchHeterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
European journal of human genetics : EJHGClinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
Molecular genetics & genomic medicineStickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS).
Clinical ophthalmology (Auckland, N.Z.)Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome.
BMC ophthalmologyProgressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.
Turkish journal of ophthalmologyAutosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
Ophthalmic geneticsComplex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.
Audiology & neuro-otologyExon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
GenesHigh Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.
Current eye researchTherapeutic and diagnostic advances in Stickler syndrome.
Therapeutic advances in rare diseaseSurgical Management of Velopharyngeal Insufficiency Due to Unilateral Oropharyngeal Agenesis in a Patient With Stickler Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationBasedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.
Italian journal of pediatricsLong-Term Follow-Up of Retinal Detachment Repair in Patients With Stickler Syndrome.
Ophthalmic surgery, lasers & imaging retinaAuditory dysfunction in type 2 Stickler Syndrome.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryDistinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.
Clinical dysmorphologyStickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Journal of personalized medicineChange in Initial Tympanostomy Tube Placement Timing Yields Decreased Burden of Care Without Increased Complications in Patients With Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOsteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
Annals of human geneticsMutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
GenesULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME.
Retina (Philadelphia, Pa.)Case Series of Stickler Syndrome Presenting With Acute Angle Closure.
Journal of glaucomaInherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Molecular genetics & genomic medicineVariable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Molecular genetics & genomic medicineSurgical management in a severe OSA patient diagnosed with Stickler syndrome.
Auris, nasus, larynxPregnancy management in a patient with stickler syndrome.
Molecular genetics & genomic medicineA CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skeletal developmental defects in humans.
BoneExpanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Annals of human geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Stickler.
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 Stickler
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 loginDoenças 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.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
- Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
- Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.
- Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
- Pathologic myopia as a concurrent condition in Pierre Robin sequence: a case report and literature review.
- Nebular Cortical Cataract in Stickler Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:828(Orphanet)
- MONDO:0019354(MONDO)
- GARD:10782(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2288646(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
