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715 Possible Causes for Blue Sclera, Ehlers Danlos Syndrome

  • Osteoporosis

    To further characterize the significance of the mutation we studied his mother who is 30 year old with blue sclera and history of backache but no fractures.[ncbi.nlm.nih.gov] […] and Ehlers-Danlos syndrome (These causes of hereditary secondary osteoporosis each are treated differently. ) What are osteoporosis symptoms and signs?[medicinenet.com] These include a short fifth digit, dentinogenesis imperfecta, hyperlaxity, hearing loss, pes planus, bunions, and blue sclerae.[emedicine.medscape.com]

  • Brittle Cornea Syndrome 2

    sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints.[zora.uzh.ch] A familial trait associated with blue sclera. Am J Ophthalmol. 1968, 66: 67-9. PubMed CrossRef 8.[springermedizin.de] Name Brittle Cornea Syndrome 2 Synonyms - Classification developmental, eye, genetic, skin, systemic and rheumatological Phenotypes Autosomal recessive inheritance ; Blue[mousephenotype.org]

  • Mitral Valve Prolapse

    (blue sclerae); and other associated findings.[rarediseases.org] MVP may also occur in patients suffering from connective tissue disorders like Marfan's syndrome and Ehlers Danlos syndrome.[symptoma.com] Grave’s disease Ehlers-Danlos syndrome Ebstein's anomaly Mitral Valve Prolapse Copyright Nucleus Medical Media, Inc.[uvahealth.com]

  • Marfan Syndrome

    LDS patients may also have widely spaced eyes, cleft palate, blue sclerae, and type 1 Chiari malformations (in which a portion of the cerebellum descends out of the skull[forgottendiseases.org] Although Marfan syndrome shares features with other connective-tissue disorders such as Loeys-Dietz , Shprintzen-Goldberg and Ehlers-Danlos syndromes, it stems from different[hopkinsmedicine.org] Differential diagnosis Differential diagnoses include MASS syndrome, Shprintzen-Goldberg syndrome, mitral valve prolapse, Ehlers-Danlos syndrome and other diseases that present[orpha.net]

  • Hallermann Syndrome

    Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy.[aaopt.org] ) - Ehlers-Danlos syndrome See also non-congenital conditions ( M , 710-739 ) de:Hallermann-Streiff-Syndrom[wikidoc.org] Blue sclerae, nystagmus, strabismus, and glaucoma are present in 10 to 30% of patients.[disorders.eyes.arizona.edu]

  • Loeys Dietz Syndrome Type 1

    sclerae Whites of eyes are a bluish-gray color 0000592 Camptodactyly of finger Permanent flexion of the finger 0100490 Craniosynostosis 0001363 Hypertelorism Wide-set eyes[rarediseases.info.nih.gov] Ehlers-Danlos syndrome, SMAD3 or TGFB2, TGFBR2", author "{Van Laer}, Lut and Dietz, {Harry C} and Bart Loeys", year "2014", doi "10.1007/978-94-007-7893-1_7", language "English[jhu.pure.elsevier.com] sclerae, a blue tinge to the whites of the eyes micrognathia , a small chin retrognathia, receding chin Skeletal system symptoms long fingers and toes contractures of the[healthline.com]

  • Spondyloepimetaphyseal Dysplasia - Abnormal Dentition Syndrome

    Diseases related with Short stature and Blue sclerae In the following list you will find some of the most common rare diseases related to Short stature and Blue sclerae that[mendelian.co] , X-Linked Ehlers-Danlos Syndrome , Spondylocheirodysplastic Type Epiphyseal Dysplasia , Multiple, 1 Epiphyseal Dysplasia , Multiple, 5 Epiphyseal Dysplasia , Multiple, With[familydiagnosis.com] sclera throughout life Presenile hearing loss in 40% Fractures at birth in 10% Kypho-scoliosis in 20% II (1/62,000) Congenita Autosomal recessive Blue sclera Extreme bone[flinders.edu.au]

  • Dermatosparaxis

    He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation.[ncbi.nlm.nih.gov] What are the Causes of Ehlers-Danlos Syndrome, Dermatosparaxis Type?[dovemed.com] Conclusions: The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae[jamanetwork.com]

  • Osteogenesis Imperfecta

    Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them.[ncbi.nlm.nih.gov] - Musculo-skeletal anomaly NOS - Ehlers-Danlos syndrome - Floating rib - Osteogenesis imperfecta - Bowleg - (Bowleg) or (Ehlers-Danlos syndrome) or (floating rib) or (fragilitas[snomedbrowser.com] The patient's mother also had blue sclera and a history of frequent fracture episodes until the age of 15 years.[ncbi.nlm.nih.gov]

  • Brittle Cornea Syndrome

    A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family.[ncbi.nlm.nih.gov] Because of similarities between the BCS and the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VI), both disorders tend to have been confounded.[ncbi.nlm.nih.gov] Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).[bjo.bmj.com]

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