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Sorsby Syndrome


Presentation

  • Oligodontia may be present. Cartilage can have diastrophic changes. Mental development is normal.[disorders.eyes.arizona.edu]
  • We describe a newborn girl presenting with the same pattern of congenital anomalies as the patients of the family originally described by Sorsby (OMIM 120400).[revista.isciii.es]
  • Inheritance - congenital achromatopsia is transmitted in an autosomal-recessive trait Presentation - patients present in early childhood with nystagmus, abnormal visual behaviour or photophobia. Acuity is less than 20/200.[patient.info]
  • An extra phalanx was present on both hands and both feet. The fundus had a tigroid appearance and showed degeneration of the choriocapillaris. No pigmentation or attenuation of the blood vessels was present. Only choroidal degeneration was present.[myslide.es]
  • A number of other conditions and syndromes may present with infantile glaucoma, along with other ocular and/or systemic findings.[centogene.com]
Galactorrhea
  • Study of acupuncture adjunctive therapy on type syndrome of schizophrenia 型綜合征的研究 Galactorrhea amenorrhea syndrome 閉經綜合征[dict.site]
Flatulence
  • Sometimes they have a trigger like: alcohol caffeine certain foods – such as spicy or fatty food stress and anxiety Other symptoms of IBS IBS can also cause: farting (flatulence) passing mucus from your bottom tiredness and a lack of energy feeling sick[sorsbymedicalpractice.webgp.com]
Constipation
  • […] symptoms The main symptoms of IBS are: stomach pain or cramps – usually worse after eating and better after doing a poo bloating – your tummy may feel uncomfortably full and swollen diarrhoea – you may have watery poo and sometimes need to poo suddenly constipation[sorsbymedicalpractice.webgp.com]
Palpitations
  • Ask for an urgent appointment if you have: lost a lot of weight for no reason bleeding from your bottom or bloody diarrhoea a hard lump or swelling in your tummy shortness of breath, noticeable heartbeats (palpitations) and pale skin These could be signs[sorsbymedicalpractice.webgp.com]
  • Patients may experience syncope, pre-syncope, palpitations, or dizziness ...[kegg.jp]
High Arched Palate
  • Someaffected individuals also have unilateral renalagenesis, double uterus and vagina, mixedhearing loss, high-arched palate, crowded irregu-lar teeth and supernumerary ribs.[documents.tips]
Absent Nails
  • The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities[monarchinitiative.org]
  • nails and distalphalanges, hypoplastic middle phalanges andvariable symphalangism (1, 2).[documents.tips]
  • […] macula type B brachydactyly The list of signs and symptoms mentioned in various sources for Coloboma of macula, type B brachydactyly includes the 14 symptoms listed below: * Dystrophy of hands * Dystrophy of feet * Rudimentary nails of index finger * Absent[checkorphan.org]
Kinky Hair
  • الصفحة 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects. ‏[books.google.com]
  • It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com]
Incontinence
  • […] mucus from your bottom tiredness and a lack of energy feeling sick (nausea) backache problems peeing – like needing to pee often, sudden urges to pee, and feeling like you can't fully empty your bladder not always being able to control when you poo (incontinence[sorsbymedicalpractice.webgp.com]

Treatment

  • Treatment Treatment Options: Surgical treatment of digital anomalies can be beneficial. Low vision aids could be helpful as well.[disorders.eyes.arizona.edu]
  • Psychological therapies for IBS If you've had IBS for a long time and other treatments aren't helping, your GP may refer you for a talking therapy such as cognitive behavioural therapy (CBT) .[sorsbymedicalpractice.webgp.com]
  • Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent developments in the investigation and treatment of retinal vascular disease; new[books.google.com]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]

Prognosis

  • These aspects are essential to define the prognosis, clinical management and information to the family, and can help also to determine the gene(s) or pathogenetic pathways involved in their origin.[revista.isciii.es]
  • Prognosis - Coloboma of macula type B brachydactyly Prognosis of Coloboma of macula, type B brachydactyly: poor The \'prognosis\' of Coloboma of macula, type B brachydactyly usually refers to the likely outcome of Coloboma of macula, type B brachydactyly[checkorphan.org]
  • Prognosis - there is no progression.[patient.info]
  • We also wished to determine the incidence of the various manifestations of Sjögren's syndrome among patients with keratoconjunctivitis sicca and to study the course and prognosis of both conditions.[jamanetwork.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology unknown. Bilateral vitritis, RPE disruption, and multifocal choroiditis that looks like histo spots but there is vitritis present. Must r/o syphilis/TB.[quizlet.com]
  • They are characterized predominantly by changes in the posterior pole of genetic etiology, and are often bilateral and symmetrical.[atlasrleye.com]
  • Ellis in her report suggested nutritional deficiency as a possible etiologic factor and Ashton described amyloid degeneration as a subgroup of the hyalin infiltrations of the eyelids.[myslide.es]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]

Epidemiology

  • 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.com]
  • Relevant External Links for TIMP3 Genetic Association Database (GAD) TIMP3 Human Genome Epidemiology (HuGE) Navigator TIMP3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TIMP3 No data available for Genatlas for TIMP3 Gene Cloning of[genecards.org]
  • The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland: clinical, genetic and epidemiologic studies. J. neurol. Sci. 9 , 479–513 (1969). 13 Bell, J. The Laurence-Moon syndrome. in The Treasury of Human Inheritance 5 , III (ed.[nature.com]
  • Diagnosis: Malattia Leventinese ( Familial Dominant Drusen or Doyne Honeycomb Retinal Dystrophy ) EPIDEMIOLOGY Age at onset: young patients with drusen (earliest reported age 15, common to have signs in second and third decade of life) Genetics: Defect[webeye.ophth.uiowa.edu]
Sex distribution
Age distribution

Pathophysiology

  • Offers the most comprehensive content available on retina , balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology[books.google.it]
  • Ongoing genetic research continues to change the understanding of pathophysiology. Stargardt's disease and fundus flavimaculatus [ 3 ] There has been some question as to whether this condition is two diseases or one.[patient.info]
  • . — Further studies on the pathophysiology of keratitis sicca of Rollet. Arch. Ophthal, 83 , 542, 1970. PubMed Google Scholar Brown, S.I. — Dry spots and corneal erosions. Int. Ophthal. Clin., 13 , 149, 1973.[link.springer.com]

Prevention

  • Genetic studies of RP are a significant factor in finding a cure or prevention for this disease. The U-M is performing research on genetic factors of RP.[umkelloggeye.org]
  • Prevention - Coloboma of macula type B brachydactyly Not supplied.[checkorphan.org]
  • At present, there are no treatment modalities to prevent disease progression.[atlasrleye.com]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]

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