Abstract We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. [jmg.bmj.com]

In WS III, upper-limb abnormalities are present, and in WS IV, Hirschsprung disease is present. Mutations in PAX3 cause WS I and WS III. Mutations in MITF cause some cases of WS II. [quizlet.com]

This can present as white flecks near the macula and periphery of the retina. However, the patient’s vision is not affected with this. [news-medical.net]

About 50% of patients presenting with a first episode of optic neuritis but no other signs of MS have demyelinating lesions on MRI. There is evidence of present or past optic neuritis in 70% of MS patients. [patient.info]

Study presented at I Congresso Triológico de Otorrinolaringologia, November 13 - 18, 1999, in São Paulo /SP. [oldfiles.bjorl.org]

• Tall Stature

  Marfanoid body habitus (group of symptoms resembling Marfan syndrome, including long limbs, facial and joint abnormalities and others) but without tall stature 5 Joint laxity that becomes less prominent with age 1, 2 Abnormalities of the spine commonly [centogene.com]

  Auditory neuropathy and optic atrophy AR 5 19 FGF3 Deafness, congenital with inner ear agenesis, microtia, and microdontia AR 13 20 FGFR3 Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall [blueprintgenetics.com]

  […] combined immunodeficiency Atkin syndrome Pitt-Hopkins-like syndrome Lubinsky syndrome Bamforth syndrome Limb-girdle muscular dystrophy type 2H Parastremmatic dwarfism Brachydactyly type A7 Al Gazali Aziz Salem syndrome Protein C deficiency Camptodactyly, tall [checkrare.com]

• Feeding Difficulties

  Prognosis of airway obstruction and feeding difficulty in the Robin sequence. Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):319-24. Stickler GB, Belau PG, Farrell FJ et al. Hereditary Progressive Arthro-Ophthalmopathy. [hypermobility.org]

• Juvenile Cataract

  The splice site mutation, c.1475 + 1G > C, was found through mutational analysis of EYA1. [15] Neurofibromatosis type 2 Neurofibromatosis type 2 (NF2) is associated with vestibular schwannomas, meningiomas, ependymomas, juvenile cataracts, and other intracranial [emedicine.medscape.com]

• Dysphagia

  Mohr-Tranebjaerg syndrome (DFN-1) Mohr-Tranebjaerg syndrome (DFN-1) is an X-linked recessive syndromic hearing loss characterized by postlingual sensorineural deafness in childhood followed by progressive dystonia, spasticity, dysphagia and optic atrophy [dizziness-and-balance.com]

  Patients usually have dysphagia due to bulbar weakness and progress within a few days to generalized weakness with other ocular signs, notably accommodation paresis and ptosis, less commonly mydriasis. [neuroophthalmology.ca]

  […] lipodystrophy associated with PPARG mutations Saul Wilkes Stevenson syndrome Cartilage-hair hypoplasia Nguyen syndrome Glanzmann thrombasthenia Jacobsen syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency Charcot-Marie-Tooth disease type 2B Odontoma dysphagia [checkrare.com]

• Arthritis

  Reactive arthritis (Reiter's syndrome) - (conjunctivitis and uveitis). Crohn's disease. Ulcerative colitis. Sarcoidosis (conjunctival granulomas and posterior uveitis). [patient.info]

  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]

  Joints The joint changes include hyperextensibility (double-jointedness) and arthritis. Babies and young children with Stickler syndrome usually have very hyperextensible joints. [wikidoc.org]

  Joints [ edit ] The joint changes include hyperextensibility (double-jointedness) and arthritis. Babies and young children with Stickler syndrome usually have very hyperextensible joints. [en.wikipedia.org]

  […] of the retina (the light-sensitive layer at the back of the eye) Early onset cataracts (clouding of the lens) Glaucoma (due to high pressure within the eye) Bones and Joints: Both stiff and hypermobile joints Early onset osteoarthritis (wear and tear arthritis [hypermobility.org]

• Genu Valgum

  […] complex II deficiency Severe intellectual disability-progressive spastic diplegia syndrome Methylmalonic acidemia with homocystinuria type cblD Tetrasomy 21 Rutherfurd syndrome Fine-Lubinsky syndrome Teeth noneruption of with maxillary hypoplasia and genu [checkrare.com]

• Platyspondyly

  Skiagrams of head, dorsolumbar spine, pelvis, both lower limbs and upper limbs revealed calvarial thickening, mild platyspondyly and outward bowing of radius and ulna. [indianpediatrics.net]

• Back Pain

  pain 1, 6 Mitral valve prolapse has been reported in nearly 50% of individuals with Stickler syndrome 1, 7 in one series and no individuals in another. [centogene.com]

• Hypertelorism

  Abstract We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. [jmg.bmj.com]

  While the elder sister has severe hypertelorism, high myopia, severe hearing loss, and mild developmental delay. [cags.org.ae]

  ITEM METADATA RECORD Title: Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity Authors: Devriendt, Koenraad Standaert [lirias.kuleuven.be]

  Four other names such as Holmes-Schepens syndrome, diaphragmatic hernia-exomphalos-hypertelorism syndrome, diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, and syndrome of ocular and facial anomilies, telecanthus and deafness should no longer [musicboys.wordpress.com]

  Individuals with Marshall syndrome manifest ocular hypertelorism, hypoplasia of the maxilla and nasal bones, flat nasal bridge and small upturned nasal tip ... [ibis-birthdefects.org]

• Pierre Robin Syndrome

  Orofacial Structure The most severe problem associated with Stickler syndrome is Pierre Robin syndrome. This refers to a cleft palate resulting from a very small lower jaw. [wikidoc.org]

  Orofacial Structure [ edit ] The most severe problem associated with Stickler syndrome is Pierre Robin syndrome. This refers to a cleft palate resulting from a very small lower jaw. [en.wikipedia.org]

  MIM Entry: 277610 Title: #277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS ;;PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA Text: A number sign (#) is used with this entry because of evidence that the disorder is caused by mutation in the COL11A2 gene [genome.jp]

  K.: Pierre Robin syndrome in brothers. Birth Defects Orig. Art. Ser. 5 (2), 220–221 (Feb. 1969). Google Scholar 12. Pemberton, J. W., Freeman, H. M., Schepens, C. L.: Familial retinal detachment and the Ehler's-Danlos syndrome. Arch. ophthal. [link.springer.com]

  Some of these include: Duane Syndrome KID Syndrome Leber's Syndrome Norrie's Disease Pierre-Robin Syndrome Trisomy 13 Of course, vision and hearing loss may occur in children with any type of syndrome or condition in the same way that vision and hearing [tsbvi.edu]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.de]

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]

Differential diagnosis The differential diagnosis includes other type II/XI collagenopathies: Knobloch syndrome Wagner syndrome Multiple epiphyseal dysplasia Kniest dysplasia (Metatropic dwarfism, type II) General treatment Treatment of Stickler syndrome [eyewiki.aao.org]

At present, there is no treatment for this condition. [afb.org]

Treatment There is no specific treatment of the disordered, so the symptoms assessment is recommended. The intestines’ movement failure should be diagnosed as soon as possible or the child will die during infancy. [medigoo.com]

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]

This condition is not life-threatening but the functional prognosis depends on the degree of visual and hearing handicap and might be poor. Qatar Kantarci et al. (2007) described two female siblings with DBS and born to healthy first cousin parents. [cags.org.ae]

There may be some benefit in those with tumor-related (58) or traumatic VI nerve palsies (51, 59) (60), which do not have as good a natural prognosis. [neuroophthalmology.ca]

Determining the etiology of hearing loss is important in determining prognosis (e.g. whether the severity of hearing impairment will worsen), optimal therapeutic interventions (e.g. hearing aids, cochlear implant, sign language) and recurrence risks to [personalizedmedicine.partners.org]

Prognosis of airway obstruction and feeding difficulty in the Robin sequence. Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):319-24. Stickler GB, Belau PG, Farrell FJ et al. Hereditary Progressive Arthro-Ophthalmopathy. [hypermobility.org]

Background Hearing loss has an incidence of 1 in 250 births and over half of isolated childhood hearing loss has a genetic etiology, with many genes involved. [personalizedmedicine.partners.org]

Etiology of Deafness 15. Autosomal Dominant Disorders 75-80% of genetic deafness attributed to AR inheritance, 18-20% to AD, with the remainder classified as X-linked or chromosomal disorders 16. [slideshare.net]

WALGER, M.; ZOROWKA, P.- Etiology of moderate an( profound deafness in childhood. HNO, 46(3): 252-263 1998. 4. GOBLIN, R. J.; TORIELLO, H. V.; COHEN JR., M. [oldfiles.bjorl.org]

Both comitant and non-comitant esotropia have many etiologies. [neuroophthalmology.ca]

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] Risk Factors The only known risk factor for Stickler syndrome is a family history of the condition [eyewiki.aao.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

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 1-3/1000 live births - 1/1000 at birth and 2/1000 at 9-16years (due to delayed diagnosis, acquired hearing loss, late onset or progressive hearing loss). [starship.org.nz]

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993; 46 : 486–491. 8. Cohen MM, Gorlin RJ. Epidemiology, etiology, and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, editors. [nature.com]

Genetic epidemiology of hearing impairment. Ann NYAS 630;16-31. Nakamura Y and others. Abnormal evoked potentials of Kearns-Sayre syndrome. [dizziness-and-balance.com]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]

Alport Syndrome Genetics and Inheritance Alport Syndrome Pathophysiology [news-medical.net]

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 [eyewiki.aao.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]

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

Unfortunatly there is no way of hearing loss prevention. Although hearing aids and implants that require surgical implantation are accessible. [medigoo.com]

To prevent metabolic coma, diet and treatment should be initiated as soon as possible [quizlet.com]

Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss [babyhearing.org]

Early detection through regular eye examination and prompt treatment is essential to prevent vision loss. [afb.org]