U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Stickler syndrome

MedGen UID:
120521
Concept ID:
C0265253
Disease or Syndrome
Synonyms: Hereditary progressive arthroophthalmopathy; hereditary progressive arthroophthalmopathy; Stickler dysplasia; Stickler Syndrome; Wagner-Stickler syndrome
SNOMED CT: Stickler syndrome (78675000); Wagner-Stickler syndrome (78675000); Stickler dysplasia (78675000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: COL11A2, COL11A1, COL9A3, COL9A2, COL9A1, COL2A1
 
Monarch Initiative: MONDO:0019354
OMIM® Phenotypic series: PS108300
Orphanet: ORPHA828

Disease characteristics

Excerpted from the GeneReview: Stickler Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]
Authors:
Geert Mortier   view full author information

Additional description

From MedlinePlus Genetics
Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes, features, and patterns of inheritance. In particular, the eye abnormalities and severity of hearing loss vary among the different types. Some types of Stickler syndrome are very rare and have been diagnosed in only a few individuals.

Most people with Stickler syndrome have joint abnormalities. Arthritis often develops early in life and may cause joint pain or stiffness. People with severe joint disease may need surgery to replace damaged joints in their 20s or 30s. Affected individuals may also have abnormal curvature of the spine (scoliosis or kyphosis) that causes back pain.

Hearing loss is also common in people with Stickler syndrome. In affected individuals, the degree of hearing loss can vary and may worsen over time. People with Stickler syndrome typically have sensorineural hearing loss (caused by changes in the inner ear) with or without conductive hearing loss (caused by changes in the middle ear).

Many individuals with Stickler syndrome have severe nearsightedness (high myopia), which means they have trouble seeing things that are far away. In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common in people with Stickler syndrome, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the light-sensitive tissue at the back of the eye (retinal detachment). These eye abnormalities can impair vision and may lead to blindness.

A characteristic feature of Stickler syndrome is a flattened facial appearance that results from underdeveloped bones in the middle of the face. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing after birth.

Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals, even among members of the same family.  https://medlineplus.gov/genetics/condition/stickler-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Stickler syndrome in Orphanet.

Professional guidelines

PubMed

Kandeeban S, Kandale K, Periyasamy P, Bhende M, Bhende P, Sinnakaruppan M, Sarangapani S
Indian J Ophthalmol 2022 Jul;70(7):2578-2583. doi: 10.4103/ijo.IJO_1833_21. PMID: 35791160Free PMC Article
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Giedion A
Skeletal Radiol 2001 Jun;30(6):357. doi: 10.1007/s002560100385. PMID: 11465779

Recent clinical studies

Etiology

Bajorski P, Fuji N, Kaur R, Pichichero ME
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-058556. PMID: 36618001Free PMC Article
Alexander P, Snead MP
Genes (Basel) 2022 Jun 26;13(7) doi: 10.3390/genes13071150. PMID: 35885933Free PMC Article
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP
Genes (Basel) 2022 Jun 18;13(6) doi: 10.3390/genes13061089. PMID: 35741851Free PMC Article
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ
Eye (Lond) 2011 Nov;25(11):1389-400. Epub 2011 Sep 16 doi: 10.1038/eye.2011.201. PMID: 21921955Free PMC Article

Diagnosis

Kasetty VM, Regan KR, Aye J, Looysen T, Patel N, Hamad AE
Retin Cases Brief Rep 2023 Nov 1;17(6):758-762. Epub 2023 Oct 23 doi: 10.1097/ICB.0000000000001288. PMID: 35972836Free PMC Article
Ortiz-Salvador M, Montero-Hernández J, Freiría-Barreiro R
JAMA Ophthalmol 2021 Sep 1;139(9):e213312. Epub 2021 Sep 15 doi: 10.1001/jamaophthalmol.2021.3312. PMID: 34524400
Rishi P, Maheshwari A, Rishi E
Indian J Ophthalmol 2015 Jul;63(7):614-5. doi: 10.4103/0301-4738.167114. PMID: 26458481Free PMC Article
Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ
Eye (Lond) 2011 Nov;25(11):1389-400. Epub 2011 Sep 16 doi: 10.1038/eye.2011.201. PMID: 21921955Free PMC Article
Horbelt CV, Aubertin MA
Gen Dent 2009 Sep-Oct;57(5):468-71. PMID: 19903636

Therapy

Firkins SA, Chittajallu V, Flora B, Yoo H, Simons-Linares R
Obes Surg 2024 May;34(5):1415-1424. Epub 2024 Mar 21 doi: 10.1007/s11695-024-07181-w. PMID: 38512645
Boysen KB, La Cour M, Kessel L
Ophthalmic Genet 2020 Jun;41(3):223-234. Epub 2020 Apr 21 doi: 10.1080/13816810.2020.1747092. PMID: 32316871
Wubben TJ, Branham KH, Besirli CG, Bohnsack BL
Ophthalmic Genet 2018 Oct;39(5):615-618. Epub 2018 Aug 21 doi: 10.1080/13816810.2018.1509355. PMID: 30130436
Carroll C, Papaioannou D, Rees A, Kaltenthaler E
Health Technol Assess 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160. PMID: 21466760Free PMC Article
Naiglin L, Clayton J, Gazagne C, Dallongeville F, Malecaze F, Calvas P
Ann Genet 1999;42(3):140-6. PMID: 10526656

Prognosis

Jiang Y, Xiao X, Sun W, Wang Y, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q
J Transl Med 2024 Jan 19;22(1):75. doi: 10.1186/s12967-024-04886-5. PMID: 38243264Free PMC Article
Bajorski P, Fuji N, Kaur R, Pichichero ME
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-058556. PMID: 36618001Free PMC Article
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI
Genet Med 2003 Jan-Feb;5(1):21-7. doi: 10.1097/00125817-200301000-00004. PMID: 12544472
Godel V, Nemet P, Lazar M
Doc Ophthalmol 1981 Dec 16;52(2):179-88. doi: 10.1007/BF01675204. PMID: 7035111

Clinical prediction guides

Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M
Arch Dis Child 2023 Oct;108(10):789-791. Epub 2023 Mar 7 doi: 10.1136/archdischild-2022-325059. PMID: 36882306
Baiyasi A, Barbosa J, Parendo A, Lin X
Eur J Ophthalmol 2022 Nov;32(6):NP10-NP12. Epub 2021 Jul 27 doi: 10.1177/11206721211035611. PMID: 34313156
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I
Eur J Hum Genet 2016 Jul;24(7):992-1000. Epub 2015 Dec 2 doi: 10.1038/ejhg.2015.250. PMID: 26626311Free PMC Article
Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI
Genet Med 2003 Jan-Feb;5(1):21-7. doi: 10.1097/00125817-200301000-00004. PMID: 12544472

Recent systematic reviews

Boysen KB, La Cour M, Kessel L
Ophthalmic Genet 2020 Jun;41(3):223-234. Epub 2020 Apr 21 doi: 10.1080/13816810.2020.1747092. PMID: 32316871
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article
Carroll C, Papaioannou D, Rees A, Kaltenthaler E
Health Technol Assess 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160. PMID: 21466760Free PMC Article
Lansford M
Adv Neonatal Care 2008 Dec;8(6):308-14. doi: 10.1097/01.ANC.0000342763.64240.69. PMID: 19060576

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...