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Oculootoradial Syndrome

OORS


Presentation

  • Acronym OORS Synonyms IVIC syndrome Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The clinical presentation is highly variable but lower limbs are normal.[malacards.org]
  • The clinical presentation is highly variable but lower limbs are normal. There have been reports of sudden death.[rarediseases.info.nih.gov]
  • Chronic tic disorder was either single or multiple, motor or phonic tics (but not both), which were present for more than a year. [7] Tourette's is diagnosed when multiple motor tics, and at least one phonic tic, are present for more than a year. [8][en.wikipedia.org]
Weakness
  • […] symptoms is not available through HPO Absent thumb Absent thumbs 0009777 Autosomal dominant inheritance 0000006 Carpal bone hypoplasia Small carpal bones Small carpals [ more ] 0001498 Carpal synostosis 0009702 External ophthalmoplegia Paralysis or weakness[rarediseases.info.nih.gov]
  • If there is any suggestion of deviation to one side/weakness, direct them to push the tip of their tongue into either cheek while you provide counter pressure from the outside.[panji1102.blogspot.com]
  • […] to partial IRF8 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency MSMD due to partial STAT1 deficiency MSSE mtDNA deletion syndrome with progressive myopathy mtDNA deletion syndromesyndrome with limb-girdle weakness[csbg.cnb.csic.es]
Sudden Infant Death Syndrome
  • infant death syndrome Sudden Unexpected Nocturnal Death Syndrome Summitt Syndrome SUNCT Syndrome superior mesenteric artery syndrome Superior Vena Cava Syndrome supine hypotensive syndrome Susac Syndrome SWEENEY-COX SYNDROME Sweet Syndrome Syndactyly-Polydactyly-Earlobe[rgd.mcw.edu]
Hearing Impairment
  • Names and Terminology for IVIC syndrome Other Names : Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia ; Oculootoradial syndrome; Instituto Venezolano[familydiagnosis.com]
  • Title Other Names: Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Oculootoradial syndrome; Instituto Venezolano de Investigaciones Cientificas syndrome[rarediseases.info.nih.gov]
  • Affiliated tissues include bone, kidney and heart, and related phenotypes are hearing impairment and joint stiffness UniProtKB/Swiss-Prot : 76 Oculootoradial syndrome: Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects[malacards.org]
  • impairment, external ophthalmoplegia, and thrombocytopenia English OMIM 147750 L6877860 no S8010689 Y RADIAL RAY DEFECTS, HEARING IMPAIRMENT, EXTERNAL OPHTHALMOPLEGIA, AND THROMBOCYTOPENIA English Medical Subject Headings C535544 L9481811 no S11791349[doctor.am]
Carpal Bone Fusion
  • Other upper limb anomalies include radial ray defects and carpal bone fusion. Upper limbs may be severely malformed. Extraocular motor disturbances and hearing loss of variable severity have also been reported.[rarediseases.info.nih.gov]
  • Definition Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss.[uniprot.org]
  • Oculootoradial syndrome is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss.[abcam.cn]
Joint Stiffness
  • Showing of 31 80%-99% of people have these symptoms Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Severe short[rarediseases.info.nih.gov]
  • Affiliated tissues include bone, kidney and heart, and related phenotypes are hearing impairment and joint stiffness UniProtKB/Swiss-Prot : 76 Oculootoradial syndrome: Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects[malacards.org]
Muscle Weakness
  • weakness - ataxia - retinitis pigmentosa Neurogenic scapuloperoneal syndrome Neurologic Waardenburg-Shah syndrome Neurological conditions associated with aminoacylase 1 deficiency Neuronal ceroid lipofuscinosis, Northern epilepsy variant Neuropathy -[csbg.cnb.csic.es]
Behavior Disorder
  • disorders X-linked HSAS X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked hyper-IgM syndrome X-linked hypohidrotic ectodermal dysplasia X-linked hypophosphatemia X-linked hypophosphatemic rickets X-linked ichthyosis X-linked immunodeficiency[csbg.cnb.csic.es]
Cleft Lip and-or Palate
  • lip and/or palate with mucous cysts of lower lip Cleft lip/palate-ectodermal dysplasia syndrome Cleft lip/palate-syndactyly-pili torti Cleft palate - coloboma - deafness Cleidocranial dysostosis Cleidocranial dysplasia Cleidocranial dysplasia - micrognathia[csbg.cnb.csic.es]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment - Tunglang Savage Bellman syndrome The list of treatments mentioned in various sources for Tunglang-Savage-Bellman syndrome includes the following list.[checkorphan.org]
  • […] those conditions are present, they often take treatment priority.[en.wikipedia.org]

Prognosis

  • Prognosis - Tunglang Savage Bellman syndrome Not supplied. Treatment - Tunglang Savage Bellman syndrome The list of treatments mentioned in various sources for Tunglang-Savage-Bellman syndrome includes the following list.[checkorphan.org]
  • Intelligence is normal in those with Tourette's, although there may be learning disabilities. [3] Severity of tics early in life does not predict tic severity in later life, [3] and prognosis is generally favorable, [74] although there is no reliable[en.wikipedia.org]

Etiology

  • Extensive updates offer you the latest knowledge on etiology, imaging, differential diagnosis, and non-operative and surgical techniques for a wide range of pediatric orthopaedic conditions. "... delivers the most comprehensive text on this subject."[books.google.de]
  • Etiology The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor involved in the maintenance and self-renewal of embryonic and hematopoietic stem cells.[rarediseases.info.nih.gov]
  • One hypothesis regarding its etiology is that radial aplasia may result from abnormal blood vessel development, which causes an abnormal gradient of nutrients important for the differentiation of mesenchyme into bone or muscle ( Van Allen et al., 1982[mhmedical.com]
  • Assessment of acute central (UMN) CN 7 dysfunction would require quite a different approach (e.g. neuroimaging to determine etiology). CN 7 is also responsible for carrying taste sensations from the anterior 2/3 of the tongue.[panji1102.blogspot.com]

Epidemiology

  • Epidemiology Prevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins ) have been described.[rarediseases.info.nih.gov]
  • Relevant External Links for SALL4 Genetic Association Database (GAD) SALL4 Human Genome Epidemiology (HuGE) Navigator SALL4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SALL4 No data available for Genatlas for SALL4 Gene A SALL4 zinc[genecards.org]
  • "The prevalence and epidemiology of Gilles de la Tourette syndrome.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • […] thought to be causally related to Tourette's and may be a different expression of the same factors that are important for the expression of tics. [45] The genetic relationship of ADHD to Tourette syndrome, however, has not been fully established. [35] Pathophysiology[en.wikipedia.org]

Prevention

  • […] granulomatosis * Multiple lentigines syndrome * I-cell disease * Galactosamine-6-sulfatase deficiency * Head injury * Diffuse sclerosis of Schilder * Strachan\'s syndrome * Sanfilippo disease * Goldscheider\'s disease * Arias oculootoradial syndrome Prevention[checkorphan.org]
  • The inferior rectus muscle has become entrapped within the resulting fracture, preventing the left eye from being able to look downward.[panji1102.blogspot.com]
  • 19 years of age found that the symptoms of 80% had minimum to mild impact on their overall functioning, and that the other 20% experienced at least a moderate impact on their overall functioning. [7] The rare minority of severe cases can inhibit or prevent[en.wikipedia.org]

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