Format

Send to:

Choose Destination

Stickler syndrome

MedGen UID:
120521
Concept ID:
C0265253
Disease or Syndrome
Synonyms: Hereditary progressive arthroophthalmopathy; Stickler dysplasia; Stickler Syndrome; Wagner-Stickler syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the 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
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Stickler syndrome (78675000); Wagner-Stickler syndrome (78675000); Stickler dysplasia (78675000)
 
Related genes: COL11A2, COL11A1, COL9A2, COL9A1, COL2A1
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 Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. 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:
Nathaniel H Robin  |  Rocio T Moran  |  Leena Ala-Kokko   view full author information

Additional description

From GHR
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. 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.Many people with Stickler syndrome have severe nearsightedness (high myopia). 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, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases.In people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear.Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain.Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals.A condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others consider it to be a separate disorder.  https://ghr.nlm.nih.gov/condition/stickler-syndrome

Term Hierarchy

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

Recent clinical studies

Etiology

Yoon JM, Jang MA, Ki CS, Kim SJ
Ann Lab Med 2016 Mar;36(2):166-9. doi: 10.3343/alm.2016.36.2.. PMID: 26709265Free PMC Article
Mingo KM, Sidman JD, Sampson DE, Lander TA, Tibesar RJ, Scott AR
JAMA Facial Plast Surg 2016 Mar-Apr;18(2):95-100. doi: 10.1001/jamafacial.2015.1658. PMID: 26540157
Fincham GS, Pasea L, Carroll C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP
Ophthalmology 2014 Aug;121(8):1588-97. Epub 2014 May 1 doi: 10.1016/j.ophtha.2014.02.022. PMID: 24793526
Antunes RB, Alonso N, Paula RG
J Plast Reconstr Aesthet Surg 2012 Aug;65(8):1029-34. Epub 2012 Mar 15 doi: 10.1016/j.bjps.2012.02.017. PMID: 22424767
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

Diagnosis

Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA
Eur J Med Genet 2017 May;60(5):275-278. Epub 2017 Mar 14 doi: 10.1016/j.ejmg.2017.03.005. PMID: 28315471
Acke FR, Swinnen FK, Malfait F, Dhooge IJ, De Leenheer EM
Eur Arch Otorhinolaryngol 2016 Oct;273(10):3025-34. Epub 2016 Jan 19 doi: 10.1007/s00405-016-3896-6. PMID: 26786361
Yoon JM, Jang MA, Ki CS, Kim SJ
Ann Lab Med 2016 Mar;36(2):166-9. doi: 10.3343/alm.2016.36.2.. PMID: 26709265Free PMC Article
Al Kaissi A, Chehida FB, Ganger R, Kenis V, Zandieh S, Hofstaetter JG, Klaushofer K, Grill F
Int J Med Sci 2013;10(9):1250-8. Epub 2013 Aug 3 doi: 10.7150/ijms.4997. PMID: 23935403Free PMC Article
Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP
J Med Genet 2013 Nov;50(11):765-71. Epub 2013 Aug 6 doi: 10.1136/jmedgenet-2012-101499. PMID: 23922384Free PMC Article

Therapy

Drews-Botsch C, Celano M, Cotsonis G, Hartmann EE, Lambert SR; Infant Aphakia Treatment Study Group.
JAMA Ophthalmol 2016 Aug 1;134(8):863-9. doi: 10.1001/jamaophthalmol.2016.1365. PMID: 27228110Free 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
de Lange J, van Rijn RR, van den Berg H, van den Akker HP
Br J Oral Maxillofac Surg 2009 Jan;47(1):59-61. Epub 2008 Jul 24 doi: 10.1016/j.bjoms.2008.05.013. PMID: 18656288
Garg S, Piva A, Sanchez RN, Sadun AA
Ophthal Plast Reconstr Surg 2003 Sep;19(5):398-400. doi: 10.1097/01.IOP.0000087030.65206.3D. PMID: 14506426
Naiglin L, Clayton J, Gazagne C, Dallongeville F, Malecaze F, Calvas P
Ann Genet 1999;42(3):140-6. PMID: 10526656

Prognosis

Mingo KM, Sidman JD, Sampson DE, Lander TA, Tibesar RJ, Scott AR
JAMA Facial Plast Surg 2016 Mar-Apr;18(2):95-100. doi: 10.1001/jamafacial.2015.1658. PMID: 26540157
Vilaplana F, Muiños SJ, Nadal J, Elizalde J, Mojal S
Arch Soc Esp Oftalmol 2015 Jun;90(6):264-8. Epub 2015 Mar 25 doi: 10.1016/j.oftal.2014.11.001. PMID: 25817961
Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G
Clin Genet 2014 Sep;86(3):282-6. Epub 2013 Sep 23 doi: 10.1111/cge.12265. PMID: 23992033
Antunes RB, Alonso N, Paula RG
J Plast Reconstr Aesthet Surg 2012 Aug;65(8):1029-34. Epub 2012 Mar 15 doi: 10.1016/j.bjps.2012.02.017. PMID: 22424767
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article

Clinical prediction guides

Acke FR, Swinnen FK, Malfait F, Dhooge IJ, De Leenheer EM
Eur Arch Otorhinolaryngol 2016 Oct;273(10):3025-34. Epub 2016 Jan 19 doi: 10.1007/s00405-016-3896-6. PMID: 26786361
Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G
Clin Genet 2014 Sep;86(3):282-6. Epub 2013 Sep 23 doi: 10.1111/cge.12265. PMID: 23992033
Vijzelaar R, Waller S, Errami A, Donaldson A, Lourenco T, Rodrigues M, McConnell V, Fincham G, Snead M, Richards A
BMC Med Genet 2013 Apr 26;14:48. doi: 10.1186/1471-2350-14-48. PMID: 23621912Free PMC Article
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. PMID: 21421862
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article

Recent systematic reviews

Gomez-Ospina N, Bernstein JA
Am J Med Genet A 2016 Apr;170A(4):870-80. Epub 2016 Jan 12 doi: 10.1002/ajmg.a.37538. PMID: 26756138
Mingo KM, Sidman JD, Sampson DE, Lander TA, Tibesar RJ, Scott AR
JAMA Facial Plast Surg 2016 Mar-Apr;18(2):95-100. doi: 10.1001/jamafacial.2015.1658. PMID: 26540157
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center