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996 Possible Causes for Ectopia Lentis, Osteoporosis

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] Most homocystinuria patients diagnosed in adulthood have severe osteoporosis, and homocystinuria is frequently mentioned as a cause of osteoporosis.[ncbi.nlm.nih.gov] Osteoporosis - in two thirds of patients by age 15. Fatty infiltration of liver . Pancreatitis .[patient.info]

  • Cole-Carpenter Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[humangenetik.uk-koeln.de] Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis.[books.google.com]

  • Calvarial Doughnut Lesions - Bone Fragility Syndrome

    […] score 7 4) Ectopia lentis FBN1 mutation known to cause aortic root dilatation Criteria for dx of Marfan's with a positive family history 1) Ectopia lentis 2) Systemic score[quizlet.com] 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] […] disease and reference values Covers both the physiology of bone and mineral homeostasis in children and diseases in one book Inhalt Chapter 18 The Spectrum of Pediatric Osteoporosis[books.google.de]

  • Spondylo-Ocular Syndrome

    In most inherited forms of ectopia lentis, findings are limited to the eye.[ommbid.mhmedical.com] The segregation of flanking marker alleles of three collagen genes and the interval for osteoporosis-pseudoglioma syndrome were analyzed.[ncbi.nlm.nih.gov] Moderate osteoporosis and advanced bone age with platyspondyly may be present.[disorders.eyes.arizona.edu]

  • Peripheral Neuropathy

    lentis, and anterior synechiae between the iris and posterior corneal surface.[genecards.org] Comprehensive health information about cancer, osteoporosis, high blood pressure and more.[web.archive.org] Seung Woo Kim, Young‐Chul Choi, Seung Min Kim and Ha Young Shin, Risk factors for osteoporosis in chronic inflammatory demyelinating polyradiculoneuropathy, Muscle & Nerve[dx.doi.org]

  • Oculo-Palato-Cerebral Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] Osteoporosis in Men Osteoporosis Risk Calculator Osteoporosis Risk Factors Osteoporosis Risk in Younger Women Osteoporosis Risk Questionnaire Osteoporosis Screening Osteoporosis[healthmedicinet.com] lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome[familydiagnosis.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia[rgd.mcw.edu] […] primary B-cell expansion with NFKB and T-cell anergy Bare lymphocyte syndrome Beare-Stevenson cutis gyrata syndrome Bent bone dysplasia syndrome Bone mineral density QTL18, osteoporosis[qlinics.com] lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type[genda.com.ar]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. ‏[books.google.com] It is associated with intellectual disability, osteoporosis, chest deformities, and increased risk of thrombotic episodes.[retinavitreous.com]

  • Marfan Syndrome

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] Shapiro, Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis, Osteoporosis, 10.1016/B978-0-12-415853-5.00053-4, (1267-[doi.org] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Marchesani-Weill Syndrome

    Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant. Ectopia lentis and pupilae.[ncbi.nlm.nih.gov] […] as brachymorphy, brachycephaly, physically short (pyknic) stature with minor facial abnormalities, rounded face in stiff attitude, hypertelorism, depressed nasal bridge, osteoporosis[link.springer.com] Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. ‏[books.google.com]

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