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]

However, midface hypoplasia and micrognathia may be present in all types as well as in Marshall syndrome. Midline clefting usually does not occur. [disorders.eyes.arizona.edu]

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]

• Pain

  Children complain of repeated back pain due to misalignment of the spine. Depression or prominence of the chest bone may be present. [medindia.net]

  DNA analysis), and referrals as needed to: an ophthalmologist or retina specialist; an audiologist for a hearing evaluation; an orthodontist for a dental evaluation; an orthopedist or rheumatologist for a musculoskeletal evaluation; a physiatrist for pain [massgeneral.org]

  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. [medlineplus.gov]

  Arthritis often appears early in life and may cause joint pain or stiffness. [ghr.nlm.nih.gov]

  […] jaw * Cleft soft palate * Cleft hard palate * Cleft uvula * Deafness * Sensorineural deafness * Conductive deafness * Dental anomalies * Reduced muscle tone * Hyperextensible joints * Clubfeet * Prominent large joints * Severe joint disease * Joint pain [checkorphan.org]

• Asymptomatic

  Sensorineural deafness with high tone loss may be asymptomatic or mild. Occasional findings include slender extremities and long fingers. Stature and intellect are usually normal. [jmg.bmj.com]

  Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder. [ncbi.nlm.nih.gov]

  In some cases, no associated symptoms are apparent (asymptomatic). However, in other cases, mitral valve prolapse can result in chest pain, abnormal heart rhythms (arrhythmias), fatigue, and dizziness. [rarediseases.org]

• Pathologist

  […] are likely to be involved in the treatment of those with Stickler's syndrome, include anesthesiologists, oral and maxillofacial surgeons ; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, optometrists, audiologists, speech pathologists [en.wikipedia.org]

• Multiple Congenital Anomalies

  Products Conditions Multiple congenital anomalies (MCA) Stickler syndrome COL11A1 - autosomal dominant Stickler syndrome type 2 Turnaround time Complete analysis: 8 weeks / Targeted analysis: 4 weeks Performing laboratory Radboudumc COL11A1 - Marshall [order.radboudumc.nl]

• Failure to Thrive

  Characteristic facial features (including prominent glabella leading to “Greek-warrior helmet appearance”), congenital heart disease, intellectual disability, seizures, failure to thrive, micrognathia, preauricular tags or pits, and hypodontia can also [perioimplantadvisory.com]

• Arthritis

  Bone and joint problems consist of arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointed. These will tend to worsen with age. [ibis-birthdefects.org]

  Depending on the organ system affected, Stickler Syndrome can cause various complications like blindness, deafness, arthritis or heart failure. [medindia.net]

  Abstract Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. [jmg.bmj.com]

  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]

  There can also be sensorineural hearing loss, joint and spine abnormalities, early onset degenerative arthritis and mitral valve prolapse. An affected person does not need to have all of these features to be diagnosed. [massgeneral.org]

• 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]

  However the most serious features of the syndrome can cause vision and hearing impairment, as well as problems with the joints. [fdna.health]

• Pierre Robin Syndrome

  Background Lannelongue and Menard first described Pierre Robin syndrome in 1891 in a report on 2 patients with micrognathia, cleft palate, and retroglossoptosis. In 1926, Pierre Robin published the case of an infant with the complete syndrome. [emedicine.medscape.com]

  A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. [en.wikipedia.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]

There is no cure for Stickler syndrome, but treatment is available for managing the symptoms. [innerbody.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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

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]

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]

Prevention of secondary complications: Antibiotic prophylaxis for certain surgical procedures if mitral valve prolapse is present. [ncbi.nlm.nih.gov]