Symptoma

Stickler Syndrome Type 5

Autosomal Recessive Stickler Syndrome Type 2

Presents new pharmacotherapy data and the latest approaches in anti-VEGF therapy for age-related macular degeneration, diabetic retinopathy, and venous occlusive disease. [books.google.com]

Together the data from the present study and the previous studies suggest that loss-of-function mutations in any of the collagen IX genes can cause autosomal recessive Stickler syndrome. [ncbi.nlm.nih.gov]

Depression or prominence of the chest bone may be present. Face: Children with Stickler Syndrome present with characteristic facial features like flat cheekbones, flat nose, long upper lip and small chin. [medindia.net]

At presentation, 22 (31.4%) eyes had a giant tear, six (8.6%) eyes had a horseshoe break, single breaks were present in seven (10.0%) eyes, multiple breaks in 35 (50%) eyes, and macular hole in two (2.85%) eyes. [dovepress.com]

Varied clinical presentations have been found, probably due to the different type of collagens found in different part of the body, but only this solely cannot explain the phenotypic distinction. [jpgo.org]

  • Short Stature

    Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat face ; Genu valgum ; Irregular vertebral endplates ; Joint hyperflexibility ; Malar flattening ; Micrognathia ; Myopia ; Platyspondyly ; Retinal detachment ; Sensorineural hearing impairment ; Short [beta.mousephenotype.org]

    The main clinical findings consisted of high myopia, vitreoretinal degeneration, retinal detachment, hearing loss, and short stature. Affected family members were found to have a homozygous loss-of-function mutation in COL9A2, c.843_c.846   4del8. [ncbi.nlm.nih.gov]

    Short stature is present in all allelic disorders and sometimes might present important clinical feature for differential diagnosis. [centogene.com]

    Systemic Features: Sensorineural hearing loss and short stature are often present. The latter is not usually a feature in other types of Stickler syndrome. [disorders.eyes.arizona.edu]

    Connective tissue problems in the body can also cause short stature, scoliosis, joint hypermobility — meaning the joints move beyond their normal range of motion — and arthritis. Intelligence is usually unaffected. [ucsfbenioffchildrens.org]

  • Surgical Procedure

    View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery. [books.google.com]

    Although many different surgical procedures have been described, tracheostomy remains the most widely used technique. [emedicine.medscape.com]

    Surgical procedures for lengthening the lower jaw or correcting a cleft palate are also available. Eye surgery: Patients with glaucoma and cataracts may require corrective surgery to prevent blindness. [innerbody.com]

    Other surgical procedures are used to remove the lenses of eyes affected by cataracts, after which lens implants are used as replacements. Subsequently, contact lenses may help improve sharpness of vision. [rarediseases.org]

  • Turkish

    RESULTS: A novel homozygous COL9A1 mutation (p.R507X) was identified in two affected Turkish sisters, and the previously published mutation (p.R295X) was found in a Moroccan boy. [ncbi.nlm.nih.gov]

    Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J Hum Genet 2016; 62 : 447–451. 16. Guo L, Girisha KM, Iida A, Hebbar M, Shukla A, Shah H et al. [nature.com]

  • Inflammation

    Contains thorough content updates in every area of retina, including advanced imaging technologies, gene therapy, inflammation and immune responses, white dot syndromes, epigenetic mechanisms, transplantation frontiers to improve retinal function, macular [books.google.com]

    Joint pain and stiffness upon rest are frequent findings, and many individuals develop inflammation of the joints during the third or fourth decade of life (early-onset osteoarthritis). [rarediseases.org]

  • Platyspondyly

    […] sucking/swallowing, surgical maxillo-facial Phenotypes Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat face ; Genu valgum ; Irregular vertebral endplates ; Joint hyperflexibility ; Malar flattening ; Micrognathia ; Myopia ; Platyspondyly [beta.mousephenotype.org]

    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. [ghr.nlm.nih.gov]

  • Short Arm

    The deletion segregates in an autosomal dominant fashion. (6) Wolf-Hirschhorn syndrome, which is due to a deletion in the short arm of chromosome 4, is also associated with oral clefts (in 25% to 50% of affected individuals). [perioimplantadvisory.com]

  • Genu Valgum

    Recessive Stickler Syndrome Synonyms - Classification bone, developmental, eye, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial Phenotypes Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat face ; Genu [beta.mousephenotype.org]

  • Hearing Impairment

    Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat face ; Genu valgum ; Irregular vertebral endplates ; Joint hyperflexibility ; Malar flattening ; Micrognathia ; Myopia ; Platyspondyly ; Retinal detachment ; Sensorineural hearing [beta.mousephenotype.org]

    Pierre Robin sequence, hearing impairment/loss and joint hypermobility are common. Eye manifestations include high myopia, cataract, retinal detachment, and vitreous abnormalities. [egl-eurofins.com]

    Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Review. Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Hearing impairment in Stickler syndrome: a systematic review. [ghr.nlm.nih.gov]

    Hearing impairment is common in STK-affected individuals and it can be of variable degree and is commonly progressive: Sensorineural hearing impairment with typically high-tone is diagnosed in 40% of individuals 1, 2 Overall sensorineural hearing loss [centogene.com]

    Hearing impairment in Stickler syndrome. Advances in Oto-Rhino-Laryngology, 61, 216–223. CrossRef PubMed Google Scholar Alshahrani, S., Ghazi, B. N. G., & Al-Rashaed, S. (2015). [link.springer.com]

  • Short Nose

    Proptotic eyes, flat face with mild frontal bossing, depressed nasal bridge, and short nose. ( f, g ) Case 3, age 9 months. [nature.com]

    Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. These features can become less pronounced with age. [jmg.bmj.com]

    Symptoms - Stickler syndrome- type 3 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face * Underdeveloped jaw * Cleft soft palate * Cleft hard palate * Cleft uvula * Deafness [checkorphan.org]

  • Withdrawn

    […] symbols: CO11A1, COLL6, STL2 ), COL9A3 (Withdrawn symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ), COL9A1, COL9A2 (Withdrawn symbols: EDM2, MED ) Mouse Orthologs Col11a1 (Withdrawn symbols: C530001D20Rik, cho ), Col9a3 (Withdrawn symbols: AV006866 ) [beta.mousephenotype.org]

Due to the retrospective nature of our study, the lack of a genetic workup and family evaluation, we were unable to analyze the pattern of inheritance in the study cohort. [dovepress.com]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.com]

Treatment Treatment Options: The myopia and hearing loss can be corrected. Lifelong vigilance and prompt treatment are required for the vitreoretinal disease. [disorders.eyes.arizona.edu]

Prognosis - Stickler syndrome- type 3 Not supplied. [checkorphan.org]

What is the Prognosis of Stickler Syndrome? Stickler Syndrome does not affect the life expectancy of an individual. Once diagnosed, the doctor and the patient's parents can take proactive steps to monitor any abnormality and promptly correct it. [medindia.net]

Confirming a genetic diagnosis is essential to determine prognosis and establish a risk for recurrence. Aneuploidies such as Trisomy 13 and 18 have a strong association with CL/CP. [perioimplantadvisory.com]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Etiology and Pathogenesis Frequency This heterogeneous birth defect has a prevalence of approximately 1 per 8500 live births. The male-to-female ratio is 1:1, except in the X-linked form. Etiology Autosomal recessive inheritance is possible. [emedicine.medscape.com]

The likelihood of a genetic or teratogenic etiology increases the more congenital anomalies with which a patient presents. [perioimplantadvisory.com]

Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52. Robin NH et al. Stickler Syndrome. GeneReviews 2000 June 9 (Updated 2014 Nov 26) [asperbio.com]

Epidemiology [ edit ] In the US, the estimated prevalence of Stickler syndrome is about 1 in 10,000 people, but it can affect as few as 1 in 100,000 in other areas of the world. [ citation needed ] History [ edit ] Scientists associated with the discovery [en.wikipedia.org]

Cleft lip with or without cleft palate (CL/CP) differs from an isolated cleft palate (CP) on embryonic, epidemiologic, and genetic levels. [perioimplantadvisory.com]

Epidemiology of retinal detachment. Achivos de la Sociedad Espanola de Oftalmologia, 90, 264–268. CrossRef Google Scholar Wang, X., Jia, X., Xiao, X., et al. (2016). [link.springer.com]

Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004; 41 :47–52. [ PubMed : 14697070 ] Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. [ncbi.nlm.nih.gov]

Offers the most comprehensive content available on retina, balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology. [books.google.com]

This finding will have a major impact on the genetic counseling of patients with Stickler syndrome and on the understanding of the pathophysiology of collagens. [scicrunch.org]

The exact pathophysiological mechanism is unclear; however it is most probably associated with the expression of type II and IX collagen in the inner ear 2, 4. [centogene.com]

Prevention Stickler syndrome is an inherited condition and cannot be prevented. Genetic screening can help affected adults assess disease risk to their offspring. Early diagnosis and treatment is key to preventing serious complications. [innerbody.com]

Prevention - Stickler syndrome- type 3 Not supplied. Diagnosis - Stickler syndrome- type 3 Not supplied. Prognosis - Stickler syndrome- type 3 Not supplied. [checkorphan.org]

As the therapy of choice to correct the conductive hearing loss and prevent middle ear complications, tympanostomy tubes are usually inserted when the palatoplasty is performed. [emedicine.medscape.com]

Genetic counseling can provide a patient and/or family with the natural history of Stickler syndrome, to identify at-risk family members, provide reproductive risks as well as possible preventive therapy or preconception/prenatal options, and allow for [centogene.com]