A peripheral pannus was present. The angles were closed, but there was no evidence of goniodysgenesis. [nature.com]

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

This study aims to analyze the mutation spectrum of COL2A1 and further elucidate the genotype-phenotype relationships in the East Asian populations with STL1, which is poorly studied at present. [bmcmedgenet.biomedcentral.com]

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]

Most patients are recognized in childhood if they present with cleft palate or severe ocular findings or have a positive family history. [medsci.org]

• Developmental Delay

  He showed mild motor developmental delay with delayed walking. Poor vision and hearing were noted when he started attending school. Family history was unremarkable. [hindawi.com]

• Saddle Nose

  Hereditary hearing loss with saddle-nose and myopia. Arch Otolaryngol1970;92:95–8. Read the full text or download the PDF: Log in using your username and password [jmg.bmj.com]

• Arthritis

  Type IV: Severe hearing and vision loss, mild enlargement of the ends of long bones (spondyloepiphyseal dysplasia), arthritis. [my.clevelandclinic.org]

  Even when this genetic mutation hasn’t been diagnosed, a doctor may decide to screen for this mutation if you or your partner share certain trends in your family history, such as early onset myopia, cataracts, or arthritis. [healthline.com]

  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. [medlineplus.gov]

  Arthritis often appears at an early age and worsens as a person gets older. Learning difficulties can also occur because of hearing and sight impairments. [wikidoc.org]

  If your child has severe arthritis, joint surgery may be indicated. Facial features and mouth: If your child was born with a cleft palate (a hole in the roof of his mouth), surgeons can repair it, typically when he is around nine months of age. [childrenshospital.org]

• Platyspondyly

  Features of midface hypoplasia, early onset high grade myopia, platyspondyly, and epiphyseal changes are compatible with differential diagnosis of acromesomelic dysplasia (AMD) (mesomelic shortening, platyspondyly, brachydactyly, prominent first toes, [hindawi.com]

  […] hearling loss Platyspondyly Scoliosis + - - - Patient IV 7 Phenotypic characterization Cleft palate Myopia Conductive hearling loss Platyspondyly Scoliosis + ++ Waddling + Patient V 9 Phenotypic and mutation of COL2A1 Cleft palate Myopia Hypermobile [medsci.org]

  Other symptoms can include: glaucoma cataracts retinal detachment vision problems or blindness hearing loss scoliosis or kyphosis other vertebrae problems like platyspondyly overly flexible joints joint pain or stiffness with age (arthritis) Share on [healthline.com]

  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. [medlineplus.gov]

• 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]

  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]

  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]

• Pierre Robin Syndrome

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

  Midline clefting (bifid uvula, submucous cleft, high arch palate, cleft repair, Pierre Robin sequence). [jmg.bmj.com]

• Thick Lips

  Facial features revealed midface hypoplasia, depressed nasal bridge, micrognathia, thick lips, and wide mouth. The left eye was smaller than the right along with eye ptosis and corneal opacity (Figure 1). [hindawi.com]

• Suggestibility

  We believe the suggestion that the type 2 phenotype can convert to the type 1 phenotype is misleading. [jmg.bmj.com]

  The overall manifestations of the current case suggested the diagnosis of STL type 1. However, he showed a few unreported features. Significant short stature present in our patient has not been reported previously. [hindawi.com]

  More advanced testing (e.g., echocardiogram) should be reserved for those with suggestive symptoms. [ncbi.nlm.nih.gov]

  It suggested that ethnicity contributes significantly to the distribution of mutations. [bmcmedgenet.biomedcentral.com]

  Recent studies have suggested that prophylactic peripheral retinal cryotherapy or laser may be effective in reducing the risk of rhegmatogenous retinal detachment, the most common cause of acute visual loss in affected patients (see Surgery section below [eyewiki.aao.org]

Management and Treatment How is Stickler syndrome treated? Treatment for Stickler syndrome varies depending on a person’s symptoms. There’s no cure for the condition, so treatment aims to alleviate symptoms. [my.clevelandclinic.org]

treatment with your primary doctor first. [healthline.com]

(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]

Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter. [mayoclinic.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]

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]

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]

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]

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]

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(1):47–52. https://doi.org/10.1597/02-055. [bmcmedgenet.biomedcentral.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]

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

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]

You can’t prevent Stickler syndrome since it’s the result of an inherited genetic mutation. [my.clevelandclinic.org]

The best course of action to prevent serious complications involves: early diagnosis quick treatment in the event of a retinal detachment prevention of a retinal tear Blindness is one of the most severe and disabling complications associated with Stickler [healthline.com]

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

Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter. [mayoclinic.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]