Presentation
ORPHA:1884 Synonym(s): Noble-Bass-Sherman syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q15.8 OMIM: - UMLS: C2931115 MeSH: - GARD: 3999 MedDRA: - The documents contained in this web site are presented for [orpha.net]
He may also present with ocular and cardiac deformities. The diagnosis is based on the family history and co-relating all the findings. [checkorphan.org]
Bass has authored over 150 publications, including several book chapters and has presented over 500 lectures at national and international meetings on diseases of the posterior segment, imaging technology and perimetry. [universityeyecenter.org]
Congenital stationary night blindness X-linked congenital night blindness is present from birth. The rod cells of the retina are functionally impaired or don't work at all. [indiastudychannel.com]
Entire Body System
- Disability
Microcephaly and intellectual disability has been reported in some patients. Organs/tissues related to Noble Bass Sherman Syndrome: 39 Eye 39 Search GEO for disease gene expression data for Noble Bass Sherman Syndrome. [malacards.org]
What is Fragile X Syndrome - YouTube ; 24/03/2016 · Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. [zcwcgnqh.tk]
Microcephaly and intellectual disability has been reported in some patients. Resource(s) for Medical Professionals and Scientists on This Disease: This section is currently in development. [rarediseases.info.nih.gov]
Search a database of articles that have been published by CDC authors within the National Center on Birth Defects and Developmental Disabilities from 1990 to present.Modeling NAFLD disease burden in China, France, Germany ... ; Modeling NAFLD disease [weezsakg.ml]
[…] syndrome Wilms tumor Winchester syndrome Wolf-hirschhorn syndrome Wolfram syndrome Woods black norbury syndrome Wrinkly skin syndrome Wyburn-mason syndrome Xanthomatosis cerebrotendinous X-linked congenital stationary night blindness X-linked intellectual disability [wikidoc.org]
- Pain
Seminars in Tan G, Sherman R, Shanti F: Biofeedback pain interventions. Practical Pain Management 3(3): 12-18, 2003. [biofeedbackroma.it]
During the physical exam, the health care provider will look for physical signs of a medical problem, such as pain and swelling or the presence of liquid or solid masses within the body. [rarediseases.info.nih.gov]
Scheuermann's Disease of the Thoracic and Lumbar Spine ; Scheuermann's disease, or Scheuermann's Kyphosis, is a condition in which the normal roundback in the upper spine is increased and results in a hunchback appearance, but rarely causes back pain. [weezsakg.ml]
The most common symptoms include: high fever, runny nose, sore throat, muscle pains, headache, coughing, sneezing, and feeling tired. These symptoms typically begin two days after exposure to the virus and most last less ... [zcwcgnqh.tk]
Classification In order to gain insight into the pathophysiology of vision loss which will in turn guide treatment decisions, the signs and symptoms should be characterized: Unilateral Bilateral Transient Persistant Sudden Gradual Painless Painful Pathophysiology [wikidoc.org]
- Short Stature
stature cone shaped epiphyses Nasal cavity cancer childhood Nasal polyposis familial Nasodigitoacoustic syndrome Nasopalpebral lipoma coloboma syndrome Nasopharyngeal cancer childhood Nasopharyngeal carcinoma Natal teeth intestinal pseudoobstruction [personalizedcause.com]
Weill-Marchesani syndrome More Details is a rare connective tissue disorder either as autosomal dominant or recessive with short stature, brachydactyly, and EL. [9] Very few cases of autosomal recessive EL with hereditary chorioretinal disorders have [annalsofian.org]
- Trisomy 21
Margaret Macintyre Latta An algorithm for determining the origin of trisomy and the ... ; Hassold T, Sherman S (2000) Down syndrome: genetic recombination and the origin of the extra chromosome 21. [weezsakg.ml]
- Swelling
During the physical exam, the health care provider will look for physical signs of a medical problem, such as pain and swelling or the presence of liquid or solid masses within the body. [rarediseases.info.nih.gov]
Gastrointestinal
- Diarrhea
Childhood functional gastrointestinal disorders - Gut (BMJ) ; syndrome in children; functional abdominal pain in children; functional diarrhea .... gastrointestinal motility, treatment goals are to .... to mid-life), who is free of vomiting between episodes [zcwcgnqh.tk]
Taneja I, Deepak K, Poojary G: Yogic versus conventional treatment in diarrhea-predominant irritable bowel syndrome: a randomized control study. [biofeedbackroma.it]
Jaw & Teeth
- High Arched Palate
The patient is usually tall and thin with long digits, high arched palate and loose joints. He may also present with ocular and cardiac deformities. The diagnosis is based on the family history and co-relating all the findings. [checkorphan.org]
Eyes
- Ectopia Lentis
Ectopia lentis, chorioretinal dystrophy and myopia. [link.springer.com]
Homepage Rare diseases Search Search for a rare disease Ectopia lentis-chorioretinal dystrophy-myopia syndrome Disease definition Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) [orpha.net]
Retinitis pigmentosa associated with ectopia lentis. Arch Ophthalmol 2002;120:852-4. 11. Noble KG, Bass S, Sherman J. Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome. Doc Ophthalmol 1993;83:97-102. 12. [annalsofian.org]
Communities, advocacy groups, and support organizations for Ectopia lentis-chorioretinal dystrophy-myopia syndrome. [rarediseases.oscar.ncsu.edu]
- Night Blindness
Congenital stationary night blindness X-linked congenital night blindness is present from birth. The rod cells of the retina are functionally impaired or don't work at all. [indiastudychannel.com]
blindness Causes * Cataract * Impaired vision * Myopia * Night blindness * Retinal detachment Diagnosis Untreated patients of Marfan's die at age 30: Marfan's syndrome is an autosomal disorder of the connective tissues. [checkorphan.org]
blindness skeletal anomalies unusual facies Night blindness congenital stationary Nijmegen breakage syndrome Nipah virus encephalitis Noble Bass Sherman syndrome Nocardiosis Nodular melanoma Nodular nonsuppurative panniculitis Noma Non functioning pancreatic [personalizedcause.com]
[…] hole, Maculopathy, Malignant hypertension, Marsden syndrome, Marshall syndrome, Melanoma of the choroid, Metamorphopsia, Metaphyseal dysplasia, Microphthalmia, Microphthalmos, Morning glory disc anomaly, Multifocal choroiditis, Neuromyelitis optica, Night [wikidoc.org]
- Visual Impairment
Pathological myopia Pathological myopia, is a condition of short-sightedness which worsens over time, causing visual impairment or vision loss. [indiastudychannel.com]
Blindness Eye examination Low vision Visual acuity Visual impairment References ↑ Clinical Pathways in Neuro-ophthalmology: An Evidence-based Approach. ISBN 978-1588901361. Template:WH Template:WS [wikidoc.org]
Psychiatrical
- Suggestibility
Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]
This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP. [annalsofian.org]
Talk to a doctor to learn if any imaging studies are suggested to diagnose or manage this disease. Diagnostic imaging studies let doctors look inside a patient's body for clues to help diagnose or manage a disease. [rarediseases.info.nih.gov]
As its name suggests, this course prepares the student for the eventual study of calculus. [nobilis.nobles.edu]
Neurologic
- Irritability
Taneja I, Deepak K, Poojary G: Yogic versus conventional treatment in diarrhea-predominant irritable bowel syndrome: a randomized control study. [biofeedbackroma.it]
Treatment
There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]
Andrasik F, Blanchard E: The biofeedback treatment of tension headache. [biofeedbackroma.it]
They offer help in all different aspects of how a rare disease can affect the daily routine of the family, from where to get special supplies to what the latest treatment is for a given condition. [rarediseases.oscar.ncsu.edu]
Epidemiology
EPIDEMIOLOGY OF DOWN SYNDROME - Emory University ; Stephanie L. Sherman,* Emily G. Allen, Lora H. Bean, and Sallie B. [weezsakg.ml]
Pathophysiology
Bass is actively involved in research in the genetics of hereditary retinal disorders and the use of imaging technology in understanding the pathophysiology of retinal disorders and has presented her work at the American Academy of Optometry continuing [universityeyecenter.org]
Sherman SL, Allen EG, Bean LH, Freeman SB. ..... the following formats: Pmiable Document Fmmat (PDF), Encapsulated PostScript (EPS), Excel, ... pathophysiology of parkinson's disease - ACNP ; Parkinson's disease (PD) is thought to affect more than 1 million [weezsakg.ml]
Classification In order to gain insight into the pathophysiology of vision loss which will in turn guide treatment decisions, the signs and symptoms should be characterized: Unilateral Bilateral Transient Persistant Sudden Gradual Painless Painful Pathophysiology [wikidoc.org]
Kropp P, Siniatchkin M, Gerber W: On the pathophysiology of migraine – links for “empirically based treatment” with neurofeedback. [biofeedbackroma.it]
Prevention
The following tools may help you gather the information you need: Milestone Tracker App [CDC] Tracks a child's milestones from age 2 months to 5 years with Center for Disease Control and Prevention's (CDC) easy-to-use illustrated checklists. [rarediseases.info.nih.gov]
Vertebrobasilar artery insufficiency Vision loss is bilateral and lasts minutes Vitreous hemorrhage Vitreous detachment Vision Loss > 24 hours:Sudden, Painless Exposure(Welder's flash) prolonged exposure to intense light/sunlight Ischemic optic neuropathy To prevent [wikidoc.org]
Peper E, Wilson V, Gibney K, Huber K, Harvey R, Shumay D: The integbration of EMG at the workstation: Assessment, treatment and prevention of repetitive strain injury. Applied psychophysiology and Biofeedback 28: 167 – 182, 2003. Philips, H. [biofeedbackroma.it]
The class prepares students to develop knowledge of, and skills in, evidence-informed substance use prevention, education, and treatment. [nobilis.nobles.edu]