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Spondylo-Ocular Syndrome


Presentation

  • ORPHA:85194 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy ICD-10: Q87.5 OMIM: 605822 UMLS: C1853925 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes[orpha.net]
  • The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including[books.google.com]
  • The index case subjects were two brothers, individuals 1 and 2, who presented with… CONTINUE READING[semanticscholar.org]
  • The index case subjects were two brothers, individuals 1 and 2, who presented with osteoporosis, cataracts, sensorineural hearing loss, and mild learning defects.[ncbi.nlm.nih.gov]
Atrial Septal Defect
  • Other findings include cataracts, retinal detachment, nystagmus, sensorineural hearing loss, atrial septal defect, mitral valve prolapse, aortic valve dysplasia, and mild learning difficulties. read more[ctgt.net]
  • septal defect Short neck Low-set ears Abnormal facial shape Antenatal intracerebral hemorrhage Porencephalic cyst Schizencephaly Spastic hemiparesis Perivascular spaces Polar cataract Facial paralysis Pontocerebellar atrophy Primitive reflex Hemolytic[mendelian.co]
  • Congenital heart malformations are often noted, with bicuspid aortic valve, patent ductus arteriosus and atrial septal defect occurring most often. These congenital heart malformations are only rarely seen in MFS.[annalscts.com]
Hypothermia
  • ) Masclee GMC...Sturkenboom MCJM 2018 19 Renal Function and Outcome of Out-of-Hospital Cardiac Arrest - Multicenter Prospective Study (SOS-KANTO 2012 Study). ( 30333435 ) Tamura T...SOS-KANTO 2012 Study Group 2018 20 Association Between Therapeutic Hypothermia[malacards.org]
  • For years I’ve suffered from bizarre symptoms – seizures, fainting, anaphylaxis, episodes of hypothermia, allergies to everything, weird rashes, severe skin flushing, eye problems, chemical intolerances – how I hate perfume – and being cold all the time[inthefringes.wordpress.com]
Wheelchair Bound
  • Patient may become wheelchair-bound by the second decade. Special education may be helpful for those with learning difficulties.[disorders.eyes.arizona.edu]
Fishing
  • Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces.[ncbi.nlm.nih.gov]
Multiple Congenital Anomalies
  • congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome[se-atlas.de]
Gagging
  • Fibroblasts from individuals 1 and 2 showed a range of defects including reduced XylT activity, GAG incorporation of (35)SO4, and heparan sulfate proteoglycan assembly.[ncbi.nlm.nih.gov]
Hearing Impairment
  • STICKLER SYNDROME, TYPE II; STL2 Is also known as stickler syndrome, vitreous type 2, stickler syndrome, beaded vitreous type; Related symptoms: Autosomal dominant inheritance Pica Hearing impairment Micrognathia Sensorineural hearing impairment SOURCES[mendelian.co]
  • Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. Bone, 110, 66-75. [More Information] Biggin, A., Munns, C. (2017). Long-Term Bisphosphonate Therapy in Osteogenesis Imperfecta.[sydney.edu.au]
  • Tinnitus or hearing impairment: suggests a vestibular cause. Olfactory hallucinations and amnesia, which may suggest a temporal lobe lesion.[patient.info]
Osteoporosis
  • Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly . Am J Ophthalmol. 2003 May;135(5):681-7.[disorders.eyes.arizona.edu]
  • Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces.[ncbi.nlm.nih.gov]
  • Search Search for a rare disease Spondylo-ocular syndrome Disease definition Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis[orpha.net]
  • Clinically, the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondly.[genome.jp]
  • New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included.[books.google.com]
Platyspondyly
  • Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly . Am J Ophthalmol. 2003 May;135(5):681-7.[disorders.eyes.arizona.edu]
  • […] rare disease Spondylo-ocular syndrome Disease definition Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly[orpha.net]
  • Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces.[ncbi.nlm.nih.gov]
  • : 12719077 Authors Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H Title Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly[genome.jp]
Recurrent Fractures
  • New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included.[books.google.com]
  • A Practical Approach to Children with Recurrent Fractures. Endocrine Development, 28, 210-225.[sydney.edu.au]
  • fractures Hepatic steatosis Genu valgum Aggressive behavior Kyphoscoliosis Thin ribs Elevated hepatic transaminase Hernia Neurofibrillary tangles Facial diplegia Behavioral abnormality Heart block Abnormality of the endocrine system Hypopigmentation[mendelian.co]
Macrocephaly
  • "[A syndrome of osteogenesis imperfecta, macrocephaly, wormian bones, frontal bossing, brachytelephalangy, hyperextensible joints, congenital blindness and oligophrenia in 3 sibs (author's transl)]".[wikidoc.org]
  • […] delay syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Madelung[se-atlas.de]
Advanced Bone Age
  • Moderate osteoporosis and advanced bone age with platyspondyly may be present. The vertebral fractures lead to abnormal spinal curvature and may result in shortened stature. Some sensorineural hearing loss is sometimes detected in the first decade.[disorders.eyes.arizona.edu]
Short Neck
  • Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.[orpha.net]
Learning Difficulties
  • Other findings include cataracts, retinal detachment, nystagmus, sensorineural hearing loss, atrial septal defect, mitral valve prolapse, aortic valve dysplasia, and mild learning difficulties. read more[ctgt.net]
  • Special education may be helpful for those with learning difficulties.[disorders.eyes.arizona.edu]
  • Possible learning difficulties due to sight and hearing problems/ Diagnosis [ edit ] Clinical diagnosis At present, no consensus minimal clinical diagnostic criteria exist. A point system was developed to aid in the diagnosis by Rose et al. 2000.[en.wikibooks.org]
  • difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase[se-atlas.de]
  • In one study out of the University of Manchester involving 125 children with JHS, 74% had arthralgia, 13% speech difficulties, 14% learning difficulties, 12% urinary tract infections 10% subluxation/dislocations of joints, while 48% had limitations of[journalofprolotherapy.com]

Workup

  • Dynamic conventional or 2D/3D CT angiograms with progressive head rotation and multiple views are invaluable as part of the workup for those patients who have a confirmed decrease in the PCA velocities on TCD.[ajns.paans.org]
Staphylococcus Aureus
  • aureus Treated With Punicalagin, a Natural Antibiotic From Pomegranate That Disrupts Iron Homeostasis and Induces SOS. ( 29528570 ) Cooper B...Nou X 2018 29 The Use of Biosensors to Explore the Potential of Probiotic Strains to Reduce the SOS Response[malacards.org]
  • Pancoast syndrome: an unusual complication of pulmonary infection by Staphylococcus aureus. Ann Thorac Surg. 1992;53:903–904. 36. Vamos G, Papp A. [Pancoast syndrome and lung tuberculosis]. Schweiz Z Tuberk. 1960;17:423–430. German. 37.[dovepress.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment Treatment Options: Pamidronate given intravenously seems to have little therapeutic value. Hearing aids can be beneficial. Lensectomy may be of benefit although no reports of cataract surgery have been reported.[disorders.eyes.arizona.edu]
  • Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options.[books.google.com]
  • […] of veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS). ( 30804485 ) Richardson P...Corbacioglu S 2019 5 Validation of treatment outcomes according to revised severity criteria from European Society for Blood and Marrow Transplantation ([malacards.org]

Prognosis

  • Prognosis - Sillence syndrome Not supplied. Treatment - Sillence syndrome Not supplied. Resources - Sillence syndrome Not supplied.[checkorphan.org]
  • What is the prognosis for spondylolisthesis? The prognosis for patients with spondylolisthesis is good. Most patients respond well to a conservative treatment plan.[medicinenet.com]
  • Age of onset is the most important factor in determining prognosis and outcome [ Back to the Top ] Reiters Disease (Reactive arthropathy) Definition Sero negative arthritis that follows urethritis, cervicitis or dysentery Triad; (described by H.[flinders.edu.au]
  • Prognosis of non-specific musculoskeletal pain in preadolescents: a prospective 4-year follow-up study till adolescence. Pain 2004;110(3):550-9. 24. Grahame R, Bird H.[tihcij.com]
  • What you can do: Regular eye exams can identify the problem early and improve prognosis. Treatment for glaucoma involves one or a combination of different eye drops to reduce pressure in eye.[arthritis.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Though cervical spondylosis is the predominant etiological factor, associated conditions like atherosclerosis, embolism or vascular occlusion, hyperviscosity syndrome, and hypercoagulation disorder can precipitate or aggravate the vertigo.[indianjotol.org]
  • Treatment for SPTS Based on the etiology and pathogenesis of SPTS, the treatment strategy involves three aspects: eliminate pathogeny, reduce irritation, and medication.[omicsonline.org]
  • Parkinsonism More Details can be caused by diverse etiologies.[annalsofian.org]
  • George et al found no etiology in 16 of 23 (70%) infants with Horner syndrome identified in the 1st year of life, 83 and Smith et al could not identify an etiology in 35% of children with a Horner syndrome who were followed for a mean period of 5 years[dovepress.com]

Epidemiology

  • Illegitimacy and psychologists' job satisfaction. ( 30674735 ) Kottwitz MU...Otto K 2019 12 Ruptured posterior circulation aneurysms: epidemiology, patterns of care, and outcomes from the Swiss SOS national registry. ( 30680461 ) Maduri R...Swiss SOS[malacards.org]
  • The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum 2004;50(8):2640-4. 3. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy.[tihcij.com]
  • Methods Statistics Trigonometry Medical & Nursing Anatomy Anesthesiology Audiology Bacteriology Biochemistry Bioethics Biomedical Science Cardiology Cardiovascular Childbirth Chiropractic Dentistry Dermatology Diagnostic Imaging Drugs Endocrinology Epidemiology[brainscape.com]
  • Ramlow J, Alexander M, LaPorte R, Kaufmann C, Kuller L (1992) Epidemiology of the post-polio syndrome. Am J Epidemiol 136:769-786.[omicsonline.org]
  • Epidemiology of occipital neuralgia. Occipital neuralgia is very uncommon, at least as compared to migraine.[dizziness-and-balance.com]
Sex distribution
Age distribution

Pathophysiology

  • Whereas most book about the neurologic examination are disease and anatomy oriented, The Neurologic Examination: Scientific Basis for Clinical Diagnosis focuses on a pathophysiological approach to the nervous system.[books.google.es]
  • Because cervicogenic dizziness is a diagnosis of exclusion, it is imperative for the physical therapist to (1) determine whether referral to another medical practitioner is warranted, (2) take a thorough subjective history to understand the pathophysiology[ptsolutions.com]
  • The proposed syndrome of cervical vertigo tetrad requires further study to fully highlight its pathophysiology and develop excellent diagnostic, therapeutic and prophylactic guidelines for its management.[ajns.paans.org]
  • New insights into the pathophysiology and management of osteoporosis in patients with β thalassaemia. Br. J. Haematol. 127, 127–139 (2004). 97. Yang, D. C. et al.[nature.com]
  • Three mutually non-exclusive models of the pathophysiology of MFS have been proposed: a dominant negative model, disturbance of tissue homeostasis, and increased susceptibility of fibrillin to proteolysis [ 7 , 23 ].[bmcmusculoskeletdisord.biomedcentral.com]

Prevention

  • 30447030 ) Maslowska KH...Fijalkowska IJ 2018 46 Validation of the SOS-PD scale for assessment of pediatric delirium: a multicenter study. ( 30458826 ) Ista E...van Dijk M 2018 47 Self-wise, Other-wise, Streetwise (SOS) training, an intervention to prevent[malacards.org]
  • Prevention It's not always possible to prevent sciatica, and the condition may recur. The key to preventing sciatica is to protect your back: If you stand for long periods of time, rest one foot on a stool or small box at times.[charlestoneyesurgery.com]
  • Treat and prevent dry eye: Artificial tears and eye lubricants restore moisture to your eye, alleviating dry eye symptoms. Treat and prevent dry skin: Avoid bathing in hot water or having prolonged exposure to warm water.[columbiadoctors.org]
  • Wolcott-Rallison Syndrome 1 Department of Pediatric and Preventive Dentistry, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, India 2 Department of Pedodontics and Preventive Dentistry, Jodhpur Dental College General Hospital, Boranara, Jodhpur[jisppd.com]
  • Causes - Sillence syndrome Other Possible Causes of these Symptoms * Abnormal curvature of the spine * Club feet * Short head * Tall stature Prevention - Sillence syndrome Not supplied.[checkorphan.org]

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