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Buscar doenças, sintomas, genes...
Síndrome de Stickler tipo 1
ORPHA:90653CID-10 · Q87.5CID-11 · LD2F.1YOMIM 108300DOENÇA RARA

Colágeno Tipo II Alfa 1 , também conhecido como COL2A1, é um gene humano que providencia instruções para a produção da cadeia pro-alfa1(II) de colágeno tipo II.

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Introdução

O que você precisa saber de cara

📋

Síndrome de Stickler tipo 1 é uma doença autossômica dominante causada por mutações no gene COL2A1. Manifesta-se com úvula bífida, fissura palatina, pectus excavatum, estatura alta desproporcional, problemas oculares (miopia, descolamento de retina, catarata) e, em alguns casos, deficiência intelectual.

Pesquisas ativas
4 ensaios
6 total registrados no ClinicalTrials.gov
Publicações científicas
22 artigos
Último publicado: 2026 Feb 20
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.5
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
15 sintomas
👁️
Olhos
11 sintomas
😀
Face
9 sintomas
👂
Ouvidos
4 sintomas
🧠
Neurológico
2 sintomas
❤️
Coração
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

100%prev.
Miopia
Muito frequente (99-80%)
100%prev.
Artralgia
Frequente (79-30%)
100%prev.
Artropatia
Frequência: 3/3
100%prev.
Vitreorretinopatia
Frequência: 25/25
100%prev.
Rigidez articular
Frequência: 3/3
90%prev.
Morfologia anormal do humor vítreo
Muito frequente (99-80%)
53sintomas
Muito frequente (11)
Frequente (15)
Ocasional (9)
Muito raro (1)
Sem dados (17)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 53 características clínicas mais associadas, ordenadas por frequência.

MiopiaMyopia
Muito frequente (99-80%)100%
ArtralgiaArthralgia
Frequente (79-30%)100%
ArtropatiaArthropathy
Frequência: 3/3100%
VitreorretinopatiaVitreoretinopathy
Frequência: 25/25100%
Rigidez articularJoint stiffness
Frequência: 3/3100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico22PubMed
Últimos 10 anos155publicações
Pico202019 papers
Linha do tempo
2026Hoje · 2026🧪 1997Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

Autosomal dominant
COL2A1Collagen alpha-1(II) chainDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (10)
Integrin cell surface interactionsMET activates PTK2 signalingDevelopmental Lineage of Pancreatic Ductal CellsAssembly of collagen fibrils and other multimeric structuresSignaling by PDGF
MECANISMO DE DOENÇA

Spondyloepiphyseal dysplasia congenital type

Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

OUTRAS DOENÇAS (22)
Legg-Calve-Perthes diseasespondylometaphyseal dysplasia, Schmidt typeplatyspondylic dysplasia, Torrance typeKniest dysplasia
HGNC:2200UniProt:P02458

Variantes genéticas (ClinVar)

1,449 variantes patogênicas registradas no ClinVar.

🧬 COL2A1: NM_001844.5(COL2A1):c.2957C>T (p.Pro986Leu) ()
🧬 COL2A1: NM_001844.5(COL2A1):c.2464-2A>T ()
🧬 COL2A1: NM_001844.5(COL2A1):c.3635G>T (p.Gly1212Val) ()
🧬 COL2A1: NM_001844.5(COL2A1):c.3166-1G>C ()
🧬 COL2A1: NM_001844.5(COL2A1):c.944G>C (p.Gly315Ala) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 320 variantes classificadas pelo ClinVar.

240
80
Patogênica (75.0%)
VUS (25.0%)
VARIANTES MAIS SIGNIFICATIVAS
COL2A1: NM_001844.5(COL2A1):c.2957C>T (p.Pro986Leu) [Likely pathogenic]
COL2A1: NM_001844.5(COL2A1):c.2464-2A>T [Likely pathogenic]
COL2A1: NM_001844.5(COL2A1):c.3166-1G>C [Pathogenic]
COL2A1: NM_001844.5(COL2A1):c.3109G>T (p.Glu1037Ter) [Likely pathogenic]
COL2A1: NM_001844.5(COL2A1):c.3597+1del [Pathogenic]

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.
2Fase 21
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de Stickler tipo 1

🗺️

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

6 ensaios clínicos encontrados, 4 ativos.

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

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
15 papers (10 anos)
#1

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences2026 Feb 27

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.

#2

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

PloS one2026

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.

#3

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics2026 Apr

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.

#4

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

The American journal of case reports2026 Feb 20

BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2). It is characterized by a distinctive craniofacial appearance, high myopia, vitreoretinal degeneration, hearing loss, and early-onset arthritis. Type 1, the most common autosomal-dominant form, results from COL2A1 variants and is strongly associated with ocular complications, including high myopia, vitreous degeneration, and retinal detachment. Early recognition of systemic and ocular findings is essential for timely management and genetic counseling. CASE REPORT An 8-year-old Saudi girl presented to the emergency department with sudden deterioration of vision in the right eye. External examination revealed midfacial hypoplasia. Ophthalmologic evaluations, including best-corrected visual acuity measurement, fundus photography, optical coherence tomography, and genetic testing, were performed. Rhegmatogenous retinal detachment was identified and surgically managed. Revision surgery was performed; at 3 years post-revision, best-corrected visual acuity in the right eye had improved to 20/30. The family history included childhood retinal detachment in the patient's father. Clinical exome sequencing identified a novel heterozygous COL2A1 frameshift variant, c.3642delT (p.Gly1215Alafs*12), that introduced a premature stop codon; Sanger sequencing confirmation and segregation analysis were consistent with pathogenicity. CONCLUSIONS This report describes a previously undocumented COL2A1 frameshift variant causing Stickler syndrome type 1. The truncating mutation may be associated with the early-onset, ocular-predominant presentation observed in the present case. This variant expands the known COL2A1 mutational spectrum and underscores the importance of molecular testing for accurate diagnosis and family counseling in pediatric collagenopathies.

#5

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

American journal of ophthalmology2026 Jan

To describe and compare the ophthalmologic and extraophthalmologic features of patients with Stickler syndrome because of pathogenic variants in COL2A1 and COL11A1. Retrospective cross-sectional study nested in a multicentric cohort study. Records of patients with a confirmed molecular diagnosis of Stickler syndrome followed up in the ophthalmology department at Necker-Enfants Malades and Cochin University hospitals (Paris) between 2016 and 2024 were retrospectively reviewed. Demographic data, clinical findings from ophthalmologic examination, and extraophthalmologic features were recorded. Patients with an incomplete file, lack of genetic evidence despite a compatible clinical phenotype, and those presenting with rare variants were excluded. Among 110 patients with confirmed Stickler syndrome, 90 (82%) had a COL2A1 variant and 20 (18%) a COL11A1 variant. The median age at last follow-up was 24.4 years (IQR 0.9-77.6), and the median follow-up duration was 10.8 years (IQR 4.2-27.3). Retinal detachment occurred in 50% of patients with COL2A1 variants (45/90) and 45% of those with COL11A1 variants (9/20), with no statistically significant difference between groups (P = .81). Twenty-four patients (22%) had a bilateral retinal detachment with a median time for a retinal detachment of the fellow eye of 3.0 (IQR 0-25.2) years. The patients with COL11A1 variants were significantly different from those with COL2A1 variants in terms of deafness frequency (50% [10/20] vs 13% [12/90]; P = .005; 95% CI 13.7%, 59.7%), axial lengths (28.9 ± 3.2 mm vs 26.3 ± 2.3 mm; P < .001; 95% CI +1.20, +4.02), age at retinal detachment onset (9.8 [IQR 5.3-19.7] years vs 13.3 [IQR 0.5-66] years; P = .006; 95% CI -12.44, -2.19), and median time to retinal detachment in the fellow eye (2.0 [IQR 0.2-3] years vs 4.5 [IQR 0-25.2] years; P = .009; 95% CI -7.99, -1.30). The study highlights phenotypic difference between COL2A1- and COL11A1-related Stickler syndrome, with COL11A1 variants potentially associated with more severe ocular phenotype. Such genotype-phenotype correlations may contribute to refining patient management and guiding prophylactic interventions. These findings could support individualized follow-up strategies; however, confirmation in larger cohorts is warranted.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC355 artigos no totalmostrando 153

2026

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences
2026

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

PloS one
2026

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

The American journal of case reports
2025

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome.

Acta ophthalmologica
2026

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics
2026

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

American journal of ophthalmology
2026

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 rehabilitation
2026

Relative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis.

Ophthalmology. Retina
2025

[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 genetics
2025

Characteristics 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 India
2025

Distal Tibial Slipped Epiphysis in Stickler Syndrome: A Case Report.

JBJS case connector
2025

[Clinical characteristics and surgical outcomes of pediatric retinal detachment associated with Stickler syndrome].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2025

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Annals of plastic surgery
2025

Paediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes.

BMJ open ophthalmology
2025

Laser prophylaxis for retinal detachment in Stickler syndrome: A systematic review and meta-analysis.

Acta ophthalmologica
2025

Myopia progression in children with Stickler syndrome: a longitudinal cohort study.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Stickler syndrome: associated musculoskeletal manifestations and first population-based incidence.

Journal of pediatric orthopedics. Part B
2025

The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.

Journal of stomatology, oral and maxillofacial surgery
2025

Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.

Ophthalmology. Retina
2024

Rhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes.

Genes
2024

Elevated 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 Strabismus
2025

Recurrent retinal detachment in Stickler Syndrome.

Eye (London, England)
2025

Retinal detachment in Type IX collagen recessive Stickler syndrome.

Eye (London, England)
2024

Pathobiology of the crystalline lens in Stickler syndrome.

Progress in retinal and eye research
2024

Novel LOXL3-associated stickler syndrome-like phenotype: a case report.

Ophthalmic genetics
2024

A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.

Journal of pediatric ophthalmology and strabismus
2024

Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.

Ophthalmology. Retina
2024

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.

Advances in rheumatology (London, England)
2024

Utilization of Anti-obesity Medications After Bariatric Surgery: Analysis of a Large National Database.

Obesity surgery
2024

[Spontaneously reattached bilateral retinal detachment in Stickler syndrome].

Journal francais d'ophtalmologie
2024

Outcomes 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 Ophthalmologie
2024

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Ophthalmic genetics
2023

Anesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report.

Cureus
2024

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.

Journal of translational medicine
2023

Multiocular 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 one
2024

Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.

Molecular genetics &amp; genomic medicine
2024

Multidisciplinary approach to inherited causes of dual sensory impairment.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2023

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.

Genes
2024

Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.

European journal of ophthalmology
2023

Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome.

The New England journal of medicine
2023

Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Archives of disease in childhood
2023

Retinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatric Retinal Specialist Treatment Preferences.

Ophthalmic surgery, lasers &amp; imaging retina
2023

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

Retina (Philadelphia, Pa.)
2023

Window of Susceptibility to Acute Otitis Media Infection.

Pediatrics
2023

Progressive degeneration of the retina in Loxl3 mutant mouse model of Stickler syndrome.

Developmental biology
2023

Long-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 Ophthalmologie
2022

Sudden Refusal to Walk in a Child with Stickler Syndrome.

Pediatrics in review
2024

The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Syndromes associated with Robin sequence: a national prospective cohort study.

Archives of disease in childhood
2023

LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.

Retina (Philadelphia, Pa.)
2022

Hearing Loss in Stickler Syndrome: An Update.

Genes
2022

Retinal Detachments in Stickler Syndrome.

Ophthalmic surgery, lasers &amp; imaging retina
2023

Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.

Ophthalmic genetics
2022

Prevention of Blindness in Stickler Syndrome.

Genes
2022

Autosomal Recessive Stickler Syndrome.

Genes
2022

Phacolytic Glaucoma in an Adult with Stickler Syndrome.

Ophthalmology. Glaucoma
2022

[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 genetics
2022

Genetic testing in four Indian families with suspected Stickler syndrome.

Indian journal of ophthalmology
2022

Dominant Stickler Syndrome.

Genes
2022

Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.

Ophthalmic genetics
2022

Preventing Retinal Detachment in Patients with Stickler Syndrome: The Effects of Preemptive Laser Photocoagulation.

Ophthalmology. Retina
2022

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

Orphanet journal of rare diseases
2022

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.

Journal of cellular and molecular medicine
2022

Risk and Prevention of Retinal Detachments in Patients with Stickler Syndrome.

Ophthalmic surgery, lasers &amp; imaging retina
2022

Laser Prophylaxis in Patients with Stickler Syndrome.

Ophthalmology. Retina
2021

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.

Genes
2022

Stickler syndrome - lessons from a national cohort.

Eye (London, England)
2022

THE PROPHYLAXIS OF FELLOW-EYE RETINAL DETACHMENT IN STICKLER SYNDROME: A RETROSPECTIVE SERIES.

Retina (Philadelphia, Pa.)
2021

Hypoplasic Vitreous in Stickler Syndrome.

JAMA ophthalmology
2021

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.

Molecular genetics &amp; genomic medicine
2022

Pleiotropy of a Stickler syndrome genotype.

European journal of ophthalmology
2021

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

American journal of medical genetics. Part A
2022

Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.

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

Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1.

International journal of pediatric otorhinolaryngology
2023

FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.

Retinal cases &amp; brief reports
2021

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Molecular genetics &amp; genomic medicine
2021

Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report.

JBJS case connector
2021

A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.

Taiwanese journal of obstetrics &amp; gynecology
2021

Generation and characterization of human induced pluripotent stem cells line JLUEYEi001-A from a 45 year old female with Stickler syndrome.

Stem cell research
2021

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Molecular genetics &amp; genomic medicine
2021

Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome.

BMC ophthalmology
2020

Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.

Turkish journal of ophthalmology
2021

Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.

Ophthalmic genetics
2021

Surgical 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 Association
2020

Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.

Italian journal of pediatrics
2020

Long-Term Follow-Up of Retinal Detachment Repair in Patients With Stickler Syndrome.

Ophthalmic surgery, lasers &amp; imaging retina
2021

Auditory 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 Surgery
2021

Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.

Clinical dysmorphology
2020

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.

Genes
2021

ULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME.

Retina (Philadelphia, Pa.)
2020

Case Series of Stickler Syndrome Presenting With Acute Angle Closure.

Journal of glaucoma
2020

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.

Molecular genetics &amp; genomic medicine
2020

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.

Molecular genetics &amp; genomic medicine
2021

Surgical management in a severe OSA patient diagnosed with Stickler syndrome.

Auris, nasus, larynx
2020

Pregnancy management in a patient with stickler syndrome.

Molecular genetics &amp; genomic medicine
2020

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Annals of human genetics
2020

Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.

Ophthalmology. Retina
2020

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.

Ophthalmic genetics
2020

A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.

Ophthalmic &amp; physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)
2020

Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.

American journal of ophthalmology
2020

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

BMC medical genetics
2020

Associated syndromes in patients with Pierre Robin Sequence.

International journal of pediatric otorhinolaryngology
2020

Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair.

Annals of plastic surgery
2021

Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.

Anesthesia and analgesia
2020

Electroretinograms of eyes with Stickler syndrome.

Documenta ophthalmologica. Advances in ophthalmology
2020

Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.

Acta ophthalmologica
2019

LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.

International journal of molecular sciences
2019

Stickler syndrome: exploring prophylaxis for retinal detachment.

Current opinion in ophthalmology
2019

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Journal of medical genetics
2019

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

American journal of medical genetics. Part A
2020

Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
2019

Bilateral Retinal Detachment in a Pediatric Patient.

The Journal of emergency medicine
2019

Stickler syndrome: a possible presentation of Pierre Robin sequence.

BMJ case reports
2019

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.

American journal of medical genetics. Part A
2018

Marshall and stickler syndrome in one family.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2019

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

European journal of human genetics : EJHG
2018

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.

BMC medical genetics
2018

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

American journal of medical genetics. Part A
2019

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Clinical genetics
2019

Contribution of three-dimensional ultrasound and three-dimensional helical computed tomography to prenatal diagnosis of Stickler syndrome.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2018

Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

Molecular vision
2018

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

BMC medical genetics
2018

The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.

Ophthalmic genetics
2018

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.

Ophthalmic genetics
2018

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.

International journal of molecular medicine
2018

Stickler syndrome in children: a radiological review.

Clinical radiology
2018

[Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?].

Journal francais d'ophtalmologie
2018

Genetic variant of Stickler's syndrome.

Archivos de la Sociedad Espanola de Oftalmologia
2017

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

Journal of medical case reports
2018

Type I membranous anomaly in Stickler syndrome.

Ophthalmic genetics
2017

Endoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis.

International journal of molecular sciences
2017

Foveal Hypoplasia in Patients with Stickler Syndrome.

Ophthalmology
2017

Osteoporosis in Stickler syndrome. A new family case with bone histology study.

Morphologie : bulletin de l'Association des anatomistes
2017

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

Ophthalmic genetics
2017

Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis.

Ophthalmic surgery, lasers &amp; imaging retina
2016

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.

Case reports in pediatrics
2016

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Molecular vision
2016

Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience.

Eye (London, England)
2016

Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.

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

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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 Surgery
2016

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.

Annals of laboratory medicine
2016

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

European journal of human genetics : EJHG
2016

Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome.

JAMA facial plastic surgery
2015

When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children.

Pediatric rheumatology online journal
2016

Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2017

Arthritis in Stickler syndrome: Inflammatory or degenerative?

International journal of rheumatic diseases
2015

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

American journal of medical genetics. Part A
2015

Perioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study.

Paediatric anaesthesia
2015

Stickler syndrome. Epidemiology of retinal detachment.

Archivos de la Sociedad Espanola de Oftalmologia
2015

Stickler syndrome associated with epilepsy: report of three cases.

European journal of pediatrics
2015

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

The Annals of otology, rhinology, and laryngology
2015

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Human genetics
2015

A 360° giant retinal tear in Stickler syndrome.

JAMA ophthalmology
Ver todos os 355 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    International journal of molecular sciences· 2026· PMID 41828453mais citado
  2. Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
    PloS one· 2026· PMID 41719287mais citado
  3. Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
    Clinical genetics· 2026· PMID 41052910mais citado
  4. Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
    The American journal of case reports· 2026· PMID 41715899mais citado
  5. Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.
    American journal of ophthalmology· 2026· PMID 40930209mais citado
  6. Axial length, myopia progression, and myopic maculopathy in Stickler syndrome.
    Acta Ophthalmol· 2025· PMID 41250836recente
  7. Characteristics of Hearing Loss in Patients with COL2A1 Gene Variants (Sticker Syndrome Type 1).
    Indian J Otolaryngol Head Neck Surg· 2025· PMID 40727136recente
  8. Type II Collagen Disorders Overview.
    · 1993· PMID 31021589recente
  9. A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
    J Pediatr Ophthalmol Strabismus· 2024· PMID 38788144recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:90653(Orphanet)
  2. OMIM OMIM:108300(OMIM)
  3. MONDO:0007160(MONDO)
  4. GARD:5018(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55345651(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 de Stickler tipo 1
Compêndio · Raras BR

Síndrome de Stickler tipo 1

ORPHA:90653 · MONDO:0007160
CID-10
Q87.5 · Outras síndromes com malformações congênitas com outras alterações do esqueleto
CID-11
Ensaios
4 ativos
Início
Childhood, Infancy, Neonatal
MedGen
UMLS
C2020284
EuropePMC
Wikidata
Papers 10a
Evidência
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