Type II collagen disorders present with a wide range of phenotypic variability 11 (100%) 0 0 0 0 2. [gimjournal.org]

Herein, we presented a group of Taiwanese patients presenting skeletal dysplastic features that are compatible with primary collagen disease. [frontiersin.org]

The patient presented with a mild phenotype. With the rapid development and application of sequencing technologies, we believe that more variants relating to milder phenotypes will be identified. [bmcmedgenomics.biomedcentral.com]

Affected subjects ranged in age from 22 to 60 years and presented with both ophthalmic and skeletal phenotypes. [jmg.bmj.com]

Savarirayan Medicine Arthritis and rheumatism 2010 The increasing evidence implicating COL2A1 mutations in individuals presenting with isolated degenerative joint disease is reviewed, aiming to alert physicians who assess these patients to this possibility [semanticscholar.org]

• Disability

  Mutations of COL9A3 have recently been reported in three brothers in an intermarried Moroccan family with features of Stickler syndrome and intellectual disability. [rarediseases.org]

  While the sibling pair manifested walking disability in their childhood, their father and aunt were less affected. [frontiersin.org]

  Google Scholar Aside from overt arthritis, Rose et al. found that 79% of adults with Stickler syndrome reported hip pain and one-fifth of adults were medically disabled from musculoskeletal pain. 12. Rose P.S. Ahn N.U. Levy H.P. et al. [gimjournal.org]

• Wheelchair Bound

  She was wheelchair-bound since early childhood despite the use of intravenous bisphosphonate therapy. Her brother, P2, was regularly followed at the pediatric endocrinology clinic for his short stature. [frontiersin.org]

  Some patients became unable to bear weight and became wheelchair-bound. 19. [gimjournal.org]

• Regurgitation

  In some cases, this may allow leakage or the backward flow of blood from the left lower chamber of the heart (ventricle) back into the left atrium (mitral regurgitation). In some cases, no associated symptoms are apparent (asymptomatic). [rarediseases.org]

  It also presents non-skeletal features, including blue/gray sclerae, hearing loss, decreased pulmonary function, and cardiac valvular regurgitation. [frontiersin.org]

• Hearing Impairment

  Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012; 7 Admiraal R.J. Szymko Y.M. Griffith A.J. Brunner H.G. Huygen P.L. Hearing impairment in Stickler syndrome. [gimjournal.org]

  Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012;7:84. [PMC free article: PMC3551705] [PubMed: 23110709] Barat-Houari M, Baujat G, Tran Mau Them F, Fabre A, Geneviève D, Touitou I. [ncbi.nlm.nih.gov]

  Because type II collagen is also located in the vitreous body of the eyes and inner ears, type II collagenopathies are commonly associated with vitreoretinal degeneration and hearing impairment. [pubs.rsna.org]

  The mother had mild bilateral hearing impairment that did not require hearing aids. They were found to have COL1A1 c.3839_3841delAAGinsCA; p.Q1280Pfs∗51 (Figure 3C). [frontiersin.org]

• Platyspondyly

  Platyspondyly is also a common feature in different phenotypes of type II collagenopathy inherited in a heterozygous manner [2]. [bmcmedgenomics.biomedcentral.com]

  This disorder of bone growth is characterized by platyspondyly, brachydactyly, short stature, and other skeletal abnormalities. [medlineplus.gov]

  The bone X-ray found platyspondyly and epiphyseal dysplastic changes (Supplementary Figures 2E–G). [frontiersin.org]

  17 years old revealed growth-related transformation of the abnormal ossification of the vertebrae and epiphyses of tubular bones, remarkable metaphyseal involvement with «corner fractures», «spotted» or enchondroma-like changes in six patients (10%), platyspondyly [mdpi.com]

  The typical skeletal dysplasia phenotype is marked by platyspondyly, irregular epiphyses, premature joint deterioration, joint laxity, and short trunk. In the eye, there is myopia and congenital vitreal anomalies predisposing to retinal detachment. [gimjournal.org]

• Fracture

  He had infrequent bone fractures that only required external splinting. [frontiersin.org]

  Achondrogenesis type II is characterized by various degrees of calcification of the pelvis, skull, and spine, without ribs fractures [8]. [hindawi.com]

  Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara. Radiology 1990;175(3):761–766. Link, Google Scholar 50. Lee CS, Fu H, Baratang N, et al. [pubs.rsna.org]

  It is a heterogeneous bone disorder characterized by frequent fractures and seems to be inherited both in dominant and recessive manners. [xiahepublishing.com]

  A radiological data analysis of patients from 1 month to 17 years old revealed growth-related transformation of the abnormal ossification of the vertebrae and epiphyses of tubular bones, remarkable metaphyseal involvement with «corner fractures», «spotted [mdpi.com]

• Lordosis

  […] growth is characterized by very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, unusually short fingers and toes (brachydactyly), flattened spinal bones (platyspondyly), and an exaggerated curvature of the lower back (lordosis [medlineplus.gov]

  […] collagen, may results in spondyloepiphyseal dysplasia congenita (SEDC) that is rare chondrodysplastic condition characterized by skeletal deformities such as short-trunk dwarfism, odontoid hypoplasia, cervical spine subluxation, scoliosis, kyphosis, lumbar lordosis [frontiersin.org]

  This was an effective treatment that improved postoperative hip pain and hip range of motion as well as improved lumbar lordosis with a low recurrence rate. 62. [gimjournal.org]

• Genu Valgum

  Genu valgum is very common but knee alignment can be normal or rarely in varum. Knee realignment procedures (e.g., for recurrent genu valgum) will fail unless done in conjunction with hip realignment. 21. [gimjournal.org]

  valgum, clubfoot, pes planus, and metaphyseal changes (Zhang et al., 2015). [frontiersin.org]

• Osteoporosis

  This may explain that P12 had a mild OI phenotype, due to the presence of frameshift COL1A1 mutation, but severe osteoporosis. [frontiersin.org]

• Pierre Robin Syndrome

  Simultaneous occurrence of the Pierre Robin syndrome and fetal chondrodysplasia [in German]. Monatsschr Kinderheilkd 1964;112:315–317. Medline, Google Scholar 44. Harris R, Patton JT, Barson AJ. Pseudo-achondrogenesis with fractures. [pubs.rsna.org]

• Unable to Walk

  He was found to have severe osteoporosis and hence started to receive intravenous bisphosphonate therapy, shortly after he had vertebral fractures at T9-T10 level that made him unable to walk at age 12 years. Figure 1. [frontiersin.org]

Google Scholar A review of current prophylactic retinal therapy protocols in Stickler patients identified 360-degree cryotherapy and laser treatment as effective prophylactic retinopexy treatments with significant treatment effect compared with observation [gimjournal.org]

Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis. Int Anaesthesiol Clin. 1988; 26: 64-71 Temple IK. Stickler's syndrome. J Med Genet. 1989; 26: 119-126 Spranger J Winterpacht A Zabel B. [jpeds.com]

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

[…] calculators and risk factors for Collagenopathy, types II and XI Healthcare Provider Resources Symptoms of Collagenopathy, types II and XI Causes & Risk Factors for Collagenopathy, types II and XI Diagnostic studies for Collagenopathy, types II and XI Treatment [wikidoc.org]

It also has to be emphasized that positive results may not change the treatment or the prognosis. [xiahepublishing.com]

It also has to be emphasized that positive results may not change the treatment or the prognosis. [xiahepublishing.com]

Moreover, a potential genotype–phenotype correlation has been identified, which can improve our understanding of the type II collagenopathies pathogenetic mechanisms and prognosis. [mdpi.com]

Etiology and pathogenesis of robin sequence in a large Dutch cohort. Am J Med Genet A. 2015; 167A: 1983-1992 Breugem C.C. Evans K.N. Poets C.F. et al. [gimjournal.org]

Conclusions Based on the clinical and genetic characteristics of 60 Russian pediatric patients with variants in the COL2A1 gene, an etiological cause and a range of typical and atypical phenotypes have been established, which are important in the formation [mdpi.com]

[…] implicating COL2A1 mutations in individuals presenting with isolated degenerative joint disease is reviewed, aiming to alert physicians who assess these patients to this possibility and enable at-risk individuals to be identified for implementation of preventative [semanticscholar.org]

This abnormal type II collagen prevents bones and other connective tissues from developing properly, which leads to the features of Kniest dysplasia. [medlineplus.gov]

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. [gimjournal.org]

Prevention and perspective in retinal detachment. Duke-Elder Lecture. Eye1989;3:491–515. Snead MP, Payne SJ, Barton DE, Yates JRW, Al-Imara L, Pope FM, Scott JD. [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]