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31 Possible Causes for Patients Do Not Have Ectopia Lentis

  • Ectopia Lentis

    Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis.[ncbi.nlm.nih.gov] Those patients who have trauma-associated ectopia lentis may have other more life-threatening complications (depending on the severity of the trauma).[emedicine.com] Abstract Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae.[ncbi.nlm.nih.gov]

  • Marfan Syndrome

    However, people with LDS do not have ectopia lentis.[forgottendiseases.org] 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]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Although patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis.[chginc.org] Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly.[chginc.org] Our laboratory offers sequencing of all coding exons (exons 1-65) of the FBN2 gene which detects 27-75% of pathogenic variants in patients with a clinical diagnosis of Congenital[chginc.org]

  • Optic Atrophy-Intellectual Disability Syndrome

    Although patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis.[chginc.org] Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly.[chginc.org] Our laboratory offers sequencing of all coding exons (exons 1-65) of the FBN2 gene which detects 27-75% of pathogenic variants in patients with a clinical diagnosis of Congenital[chginc.org]

  • Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia

    Patients do not have ectopia lentis. Patients differ from MFS patients in that they usually have some level of intellectual disability.[emedicine.medscape.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Although patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis.[chginc.org] Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly.[chginc.org] Our laboratory offers sequencing of all coding exons (exons 1-65) of the FBN2 gene which detects 27-75% of pathogenic variants in patients with a clinical diagnosis of Congenital[chginc.org]

  • Spinocerebellar Ataxia Type 4

    Although patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis.[chginc.org] Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly.[chginc.org] Our laboratory offers sequencing of all coding exons (exons 1-65) of the FBN2 gene which detects 27-75% of pathogenic variants in patients with a clinical diagnosis of Congenital[chginc.org]

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    Although patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis.[chginc.org] Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly.[chginc.org] Our laboratory offers sequencing of all coding exons (exons 1-65) of the FBN2 gene which detects 27-75% of pathogenic variants in patients with a clinical diagnosis of Congenital[chginc.org]

  • MASS Syndrome

    Patients do not have ectopia lentis. Patients differ from MFS patients in that they usually have some level of intellectual disability.[emedicine.medscape.com] However, people with LDS do not have ectopia lentis.[forgottendiseases.org] 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]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Although patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis.[chginc.org] Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly.[chginc.org] Our laboratory offers sequencing of all coding exons (exons 1-65) of the FBN2 gene which detects 27-75% of pathogenic variants in patients with a clinical diagnosis of Congenital[chginc.org]

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