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509 Possible Causes for Ectopia Lentis, Marfanoid Habitus

  • 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] The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of[ncbi.nlm.nih.gov] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] habitus, osteoporosis, attention deficit and hyperactivity disorder.[ncbi.nlm.nih.gov] Homocystinuria was first described in 1962 as the constellation of tall, thin body type (so-called Marfanoid habitus), lens subluxation with high myopia, frequent developmental[jci.org]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] habitus.[ncbi.nlm.nih.gov] PURPOSE: To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz] habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.[orpha.net] Craniosynostosis syndrome associated with marfanoid habitus and intellectual difficulty.[genetics4medics.com]

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] Abstract Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus,[ncbi.nlm.nih.gov] The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear[ncbi.nlm.nih.gov]

  • Isolated Ectopia Lentis

    We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance.[ncbi.nlm.nih.gov] COMMONLY ASSOCIATED CONDITIONS • Marfan syndrome: Aortic root dilation, Marfanoid habitus, pectus excavatum/carinatum, and other features. • Ehlers–Danlos: joint laxity, “[entokey.com] Patients typically have fair skin with coarse hair, osteoporosis, mental retardation (nearly 50%), seizure disorder, marfanoid habitus, and poor circulation.[emedicine.medscape.com]

  • Hypermobility Syndrome

    Ectopia lentis is absent.[rheumatologyadvisor.com] The Marfanoid habitus is one of the minor sign of the Brighton Criteria for the diagnosis of JHS and it can be seen both in JHS and in Marfan syndrome.[reumatologia-dr-bravo.cl] A marfanoid habitus and hyperextensible skin are seen with hypermobility syndrome.[rheumaknowledgy.com]

  • Keratoglobus

    Associated findings include anterior megalophthalmos, enlarged ciliary ring with zonular stretching (leading to phacodonesis), ectopia lentis, iridodonesis, iris stromal hypoplasia[medical-dictionary.thefreedictionary.com] Other systemic features in this type are the presence of hypermobile joints, skeletal abnormalities like scoliosis, pectus excavatum, a marfanoid habitus, and hearing loss[aimu.us] Keratoconus may be associated with : Ocular conditions e.g. ectopia lentis, congenital cataract, aniridia, retinitis pigmentosa, and vernal keratoconjunctivitis (VKC).[ophthalmologylife.blogspot.com]

  • Lens Dislocation

    . [3] Ocular diseases associated with ectopia lentis Simple ectopia lentis – simple ectopia lentis can occur as a congenital disorder or as a spontaneous disorder later in[eyewiki.aao.org] habitus 14.[slideshare.net] Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families. Mol Vis 2009;15: 826–832.[webeye.ophth.uiowa.edu]

  • Ehlers Danlos Syndrome

    MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root dilation/dissection, ectopia lentis and bone overgrowth,[ncbi.nlm.nih.gov] habitus.[bestpractice.bmj.com] Ocular features An important distinguishing feature between LDS and MFS is the lack of ectopia lentis in LDS ( 28 ).[annalscts.com]

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