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588 Possible Causes for Ectopia Lentis, Gigantism

  • 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] Gigantism and acromegaly. Hyperpituitarism. Hyperthyroidism. Klinefelter's syndrome. Homocystinuria. Loeys-Dietz aortic aneurysm syndrome. Sphrintzen-Goldberg syndrome.[patient.info] 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] Ectopia lentis, diagnosed several years before, didn't have been considered as possible sign of a metabolic disorder.[ncbi.nlm.nih.gov] It is necessary to rule out homocystinuria in patients with ectopia lentis, even in the absence of systemic symptoms.[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia 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] […] skeletal, cardiac and renal abnormalities DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism[wikidata.org] Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked syndrome characterized by pre- and postnatal overgrowth (gigantism), which clinically resembles the autosomal Beckwith-Wiedemann[ncbi.nlm.nih.gov]

  • Thickened Earlobes-Conductive Deafness Syndrome

    lentis isolated Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism Ectrodactyly cleft palate syndrome[bioreference.net] […] exomphalos-macroglossia-gigantism syndrome Beckwith-Wiedemann s. Medical dictionary. 2011.[medicine.academic.ru] Ectopia lentis isolated[?] Ectopia pupillae[?] Ectopic coarctation[?] Ectopic ossification familial type[?] Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism[?][encyclopedia.kids.net.au]

  • Beckwith-Wiedemann 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] Synonym(s): Exomphalos-Macroglossia-Gigantism Syndrome / Wiedemann-Beckwith Syndrome / Wiedemann-Beckwith Syndrome (WBS) / Beckwith Wiedemann Syndrome / See also: Gigantism[hon.ch] Exomphalos-Macroglossia-Gigantism Syndrome in Jamaican Infants.[doi.org]

  • Sotos 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] , Soto syndrome , Sotos' syndrome (diagnosis) , Sotos' syndrome , Gigantisms, Cerebral , Cerebral Gigantisms , Gigantism, Cerebral , Syndrome, Sotos , Cerebral Gigantism[fpnotebook.com] Sotos syndrome, or cerebral gigantism, is a syndrome of accelerated growth during early childhood, and a number of craniofacial and other physical abnormalities are commonly[ncbi.nlm.nih.gov]

  • MASS Syndrome

    More than 30 mutations in the FBN1 gene have been found to cause isolated ectopia lentis.[ghr.nlm.nih.gov] […] caused by a heterozygous mutation in the SKI gene, located on chromosome 1p36. [35, 36, 37] Differential Diagnoses Fragile X Syndrome Genetics of Ehlers-Danlos Syndrome Gigantism[emedicine.medscape.com] Familial Ectopia Lentis Some families show variable skeletal manifestations of MFS along with ectopia lentis.[doi.org]

  • Exostoses - Anetodermia - Brachydactyly Type E Syndrome

    […] cordis Ectopia lentis Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectr [ edit ] Ectrodactyly cardiopathy dysmorphism Ectrodactyly[en.wikipedia.org] […] familial Evan's syndrome Ewing's Sarcoma Ex-Ey Exencephaly Exercise induced anaphylaxis Exfoliative dermatitis Exner syndrome Exogenous lipoid pneumonia Exomphalos-macroglossia-gigantism[ssf.f15ijp.com] […] syndrome * Ewing's Sarcoma Ex-Ey * Exencephaly * Exercise induced anaphylaxis * Exfoliative dermatitis * Exner syndrome * Exogenous lipoid pneumonia * Exomphalos-macroglossia-gigantism[en.academic.ru]

  • Oculo-Osteo-Cutaneous Syndrome

    Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[rgd.mcw.edu] Syndrome 87 Cerebellopontine Angle Syndrome 336 Cerebelloretinal Hemangioblastomatosis 1313 Cerebral Autosomal Domint Arteriopathy 222 Cerebral Cholesterinosis 223 Cerebral Gigantism[dentisty.org] […] calcifications opalescent teeth phosphaturia * Cerebral cavernous hemangioma * Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome * Cerebral gigantism[medicalgeek.com]

  • 15q Overgrowth Syndrome

    Linkage Analysis for Ectopia Lentis Figure 1. Figure 1. Results of Genotyping for Two Fibrillin Gene Markers on Chromosome 15 in a Family with Ectopia Lentis.[nejm.org] PMID 3024486 Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome.[atlasgeneticsoncology.org] […] nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism[wikidata.org]

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