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Stickler syndrome type 1(STL1)

MedGen UID:
810955
Concept ID:
C2020284
Congenital Abnormality; Disease or Syndrome
Synonyms: Arthroophthalmopathy, hereditary progressive; COL2A1-Associated Stickler Syndrome; COL2A1-Related Stickler Syndrome; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1; STL1
Modes of inheritance:
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 dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary arthro-ophthalmopathy (78675000); Hereditary progressive arthro-ophthalmopathy (78675000)
 
Gene (location): COL2A1 (12q13.11)
OMIM®: 108300

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 descriptions

From OMIM
Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis. Stickler syndrome type III is a nonocular form of the disorder (summary by Baker et al., 2011). Genetic Heterogeneity of Stickler Syndrome See 609508 for a form of Stickler syndrome type I which is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2; 604841), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene (120280) on chromosome 1p21. Stickler syndrome type III (STL3; 184840), sometimes called the nonocular form, is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21. These forms of Stickler syndrome are autosomal dominant. Autosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4; 614134), caused by mutation in the COL9A1 gene (120210) on chromosome 6q12-q14, and Stickler syndrome type V (STL5; 614284), caused by mutation in the COL9A2 gene (120260) on chromosome 1p33-p32.2.  http://www.omim.org/entry/108300
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

Clinical features

Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Irregular femoral epiphysis
MedGen UID:
340592
Concept ID:
C1850658
Finding
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Spondyloepiphyseal dysplasia congenita
MedGen UID:
20916
Concept ID:
C0038015
Finding
Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
Irregular femoral epiphysis
MedGen UID:
340592
Concept ID:
C1850658
Finding
Robin sequence
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Pyeritz RE; American College of Medical Genetics and Genomics.
Genet Med 2012 Jan;14(1):171-7. Epub 2012 Jan 5 doi: 10.1038/gim.2011.48. PMID: 22237449

Recent clinical studies

Etiology

Traboulsi EI, Vanderveen D, Morrison D, Drews-Botsch CD, Lambert SR; Infant Aphakia Treatment Study Group.
Eye (Lond) 2016 Sep;30(9):1170-4. Epub 2016 Jun 17 doi: 10.1038/eye.2016.124. PMID: 27315350Free PMC Article
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
Suemori S, Sawada A, Shiraki I, Mochizuki K
Semin Ophthalmol 2014 Jan;29(1):45-7. Epub 2013 Oct 28 doi: 10.3109/13506129.2013.839805. PMID: 24164106
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

Diagnosis

Traboulsi EI, Vanderveen D, Morrison D, Drews-Botsch CD, Lambert SR; Infant Aphakia Treatment Study Group.
Eye (Lond) 2016 Sep;30(9):1170-4. Epub 2016 Jun 17 doi: 10.1038/eye.2016.124. PMID: 27315350Free PMC Article
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
Suemori S, Sawada A, Shiraki I, Mochizuki K
Semin Ophthalmol 2014 Jan;29(1):45-7. Epub 2013 Oct 28 doi: 10.3109/13506129.2013.839805. PMID: 24164106
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

Therapy

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

Prognosis

Traboulsi EI, Vanderveen D, Morrison D, Drews-Botsch CD, Lambert SR; Infant Aphakia Treatment Study Group.
Eye (Lond) 2016 Sep;30(9):1170-4. Epub 2016 Jun 17 doi: 10.1038/eye.2016.124. PMID: 27315350Free 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
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
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
Watanabe Y, Ueda M, Adachi-Usami E
Br J Ophthalmol 1996 Nov;80(11):976-81. PMID: 8976725Free 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
Fujii M, Tachibana K, Takeuchi M, Nishio J, Kinouchi K
Paediatr Anaesth 2015 Aug;25(8):829-33. Epub 2015 May 14 doi: 10.1111/pan.12675. PMID: 25973908
Kwon D, Grekov K, Krishnan M, Dyleski R
Int J Pediatr Otorhinolaryngol 2014 Aug;78(8):1337-41. Epub 2014 Jun 2 doi: 10.1016/j.ijporl.2014.05.023. PMID: 24954158
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
Watanabe Y, Ueda M, Adachi-Usami E
Br J Ophthalmol 1996 Nov;80(11):976-81. PMID: 8976725Free PMC Article

Recent systematic reviews

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

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