Diagnosis History Stickler syndrome classically presents in the pediatric population due to the characteristic facies associated with Pierre-Robin sequence. [eyewiki.aao.org]

Significant short stature present in our patient has not been reported previously. In previous reports height was reported to be normal in most patients [5, 6]. [hindawi.com]

Eye abnormalities: Eye exams can detect eye problems such as cataracts that are often present at birth in children with Stickler syndrome. [childrenshospital.org]

At present, no consensus minimal clinical diagnostic criteria exist. [ncbi.nlm.nih.gov]

The numbered bands specify the location of the thousands of genes that are present on each chromosome. [rarediseases.org]

• Proportionate Short Stature

  On physical examination his weight, height, and head circumference were 22 kg (between 0 and −1 SD), 99 cm (<−3 SD proportionate short stature), and 47.8 cm (<3 percentiles), respectively. [hindawi.com]

• Broad Thorax

  The thorax was broad and short. The ilia appeared short and broad. Diffuse osteopenia was evident at the epiphysis of bilateral femora and tibiae which were normal in shape, apart from mild flattening of the distal femoral epiphyses. [hindawi.com]

• Palpitations

  Heart conditions: Most children who have mitral valve prolapse don’t need any treatment If treatment is necessary, doctors can use medications to treat symptoms such as chest pain and palpitations. [childrenshospital.org]

• Abnormal Teeth

  The pedigree showed autosomal dominant inheritance, normal stature but diminished sweating, and abnormal teeth. Hair and nails were normal. [jmg.bmj.com]

• Sweating

  The pedigree showed autosomal dominant inheritance, normal stature but diminished sweating, and abnormal teeth. Hair and nails were normal. [jmg.bmj.com]

• Hearing Impairment

  Discussion STL type 1 is a rare autosomal dominant condition with characteristic ophthalmological and orofacial features, hearing impairment, and mild spondyloepiphyseal dysplasia. [hindawi.com]

  Learning difficulties can also occur because of hearing and sight impairments. [wikidoc.org]

  Hearing impairment is common. The degree of hearing impairment is variable and may be progressive. Some degree of sensorineural hearing impairment (typically high-tone, often subtle) is found in 40% of individuals [Snead & Yates 1999]. [ncbi.nlm.nih.gov]

  The notable differences were that those with COL11A1 mutations more commonly had severe hearing impairment and seldom had vitreoretinal degeneration or retinal detachment. [jmg.bmj.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. [medlineplus.gov]

(3% incidence of RD) as compared to no treatment (73% incidence of RD). [eyewiki.aao.org]

For those children who do need treatment, we focus on managing your child’s symptoms. Treatments fall into several categories, depending on what part of your child’s body is affected. [childrenshospital.org]

Treatment Many professionals that are likely to be involved in the treatment of those with Stickler's Syndrome, include ophthalmologists, audiologists and rheumatologists. [wikidoc.org]

[…] of refractive errors with spectacles; standard treatment of retinal detachment and sensorineural and conductive hearing loss; symptomatic treatment for arthropathy. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of Stickler syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Prognosis There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis. [eyewiki.aao.org]

Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. Competing Interests The authors declare that there is no conflict of interests regarding the publication of this paper. [hindawi.com]

Therefore, it is empirical to delineate the underlying pathology because the prognosis of skeletal dysplasias compared with the several causations of hip deformities requires prompt indication for a precise therapeutic intervention is more guarded [18 [medsci.org]

A note from Cleveland Clinic Stickler syndrome can affect each person differently and the symptoms can range in severity, but the diagnosis does not affect overall life expectancy and the majority of cases have a positive prognosis. [my.clevelandclinic.org]

Conclusions Genotype-phenotype correlations should certainly be studied carefully, contributed to making personalized follow-up plans and predicting prognosis of this disorder. [bmcmedgenet.biomedcentral.com]

Etiology Types 1-4 Stickler syndrome are classically inherited in an autosomal dominant fashion[3], though a significant number of cases may be sporadic.[2]. Type 5 has only ocular involvement (COL2A1). [eyewiki.aao.org]

Some of the subjects in this group have been further investigated by means of reformatted CT scan to understand the etiology behind their early onset spine stiffness. [medsci.org]

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]

Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41(1):47–52. https://doi.org/10.1597/02-055. [bmcmedgenet.biomedcentral.com]

Pathophysiology Stickler syndrome is an autosomal dominant condition, meaning only one parent needs to have an abnormal gene for the child to inherit the disease. [wikidoc.org]

Pathophysiology Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous.[2] Normal collagen fibrils are composed of three identical [eyewiki.aao.org]

The pathophysiology of the spinal abnormalities in Stickler syndrome has not been fully defined. [medsci.org]

Because Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]

Early identification of ocular and auditory abnormalities allows early treatment and prevention of complications. Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. [hindawi.com]

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

Prevention and perspective in retinal detachment. Eye1989;3 (Pt 5) :491–515. ↵ Marshall D. Report of a kindred with ocular abnormalities and hearing defect. Am J Ophthalmol1958;45:143–56. ↵ Parentin F, Sangalli A, Mottes M, Perissutti P. [jmg.bmj.com]

Individuals with Stickler syndrome and Pierre-Robin sequence may require a tracheostomy (a procedure in which a tube is placed through a surgical opening in the neck) to prevent breathing (respiratory) difficulties. [rarediseases.org]