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]

• Constipation

  If the disease wasn’t initially recognized children experience constipation. Diagnosis Diagnosis is based on the typical clinical image, X-ray or MRI of the abdominal organs and hearing testing. [medigoo.com]

• Dermatitis

  Atopic dermatitis. Neurofibromatosis-2. Congenital rubella. Lowe's syndrome. Refsum's disease. Hypoparathyroidism. Drug exposure: Steroids (including prolonged use of topical steroids). Chlorpromazine. Busulfan. Amiodarone. Gold. Allopurinol. [patient.info]

  […] proportionate with hip dislocation Fibular aplasia ectrodactyly Deafness, dystonia, and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and severe dermatitis [checkrare.com]

• Convulsions

  Patients usually present with hypocalcaemia, tetany, or afebrile convulsions at any age. Hearing loss is usually bilateral and may range from mild to profound impairment. [dizziness-and-balance.com]

  […] neurocutaneous Mucopolysaccharidosis type IIIC Macrozoospermia Ichthyosis prematurity syndrome Chromosome 12p duplication Acro-pectoro-renal field defect Spinal muscular atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly type B Infantile convulsions [checkrare.com]

  This - the 'tonic phase' - is replaced by convulsive movements (the 'clonic phase') when the tongue may be bitten. Movements gradually cease and the patient may rouse in a state of confusion. [richardsonthebrain.com]

• Clumsiness

  (NHGRI) Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. [richardsonthebrain.com]

• Enlargement of the Liver

  Enlargement of the liver and spleen, decrease in number of blood platelets, inflammation of the choroid and retina, abnormal smallness of the head, and calcification around the veins of the cerebral portion of the brain may occur. [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]