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122 Possible Causes for Cataracts Usually Congenital, Congenital Eye Anomaly, Skeletal Dysplasia

  • Hallermann-Streiff Syndrome

    […] bilateral congenital cataracts, and microphthalmia.[profiles.uchicago.edu] Syndrome Clouston Syndrome Coffin-Siris Syndrome Cooks Syndrome Corneodermatoosseous Syndrome Cranioectodermal Dysplasia 1 Deafness with Anhidrotic Ectodermal Dysplasia Deafness[nfed.org] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov]

  • Stickler Syndrome

    Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive.[ncbi.nlm.nih.gov] […] of an underlying skeletal dysplasia.[ncbi.nlm.nih.gov] The vitreous showed distinct abnormalities consistent with congenital vitreous anomaly of type 1 Stickler syndrome.[ncbi.nlm.nih.gov]

  • Congenital Cataract

    What percentage of congenital cataracts are inherited and part of syndromes? Bilateral congenital cataracts are usually inherited or acquired?[quizlet.com] , And Sprengel Anomaly, Included Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Nevoid Basal Cell Carcinoma Syndrome BCNS NBCCS 109400 Genetic Test[ukgtn.nhs.uk] Overview Background A cataract is an opacification of the lens. Congenital cataracts usually are diagnosed at birth.[emedicine.medscape.com]

  • Ectopia Lentis

    Cataracts are by nature somewhat unpredictable but based upon location and etiology can usually be ascribed a predictive behavior; for instance, congenital nuclear cataracts[vin.com] Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation Trigonobrachycephaly, Bulbous Bifid[rgd.mcw.edu] Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Congenital malformations of eye H00662 Ectopia lentis Human diseases in ICD-11[genome.jp]

  • Hypomyelinating Leukodystrophy Type 5

    The infant may also need to be treated for the inherited disorder that is causing the cataracts. Removing a congenital cataract is usually a safe, effective procedure.[medlineplus.gov] , And Sprengel Anomaly, Included Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Nevoid Basal Cell Carcinoma Syndrome BCNS NBCCS 109400 Genetic Test[ukgtn.nhs.uk] Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor development in the first year of life, followed[ncbi.nlm.nih.gov]

  • Congenital Malformation

    Four types of congenital cataracts, such as anterior polar, lamellar, polymorphic and total Red stethoscope and heart shape with plaster on it.[shutterstock.com] Learn more information about the International Skeletal Dysplasia Registry at Cedars-Sinai.[cedars-sinai.edu] 740 Anencephalus and similar anomalies 741 Spina bifida 742 Other congenital anomalies of nervous system 743 Congenital anomalies of eye 744 Congenital anomalies of ear face[icd9data.com]

  • Hydrophthalmos

    The hallmark of this disorder is the appearance of congenital bilateral cataracts (thick clouding of the lenses) that are usually deemed visually significant at birth.[news-medical.net] Other nonorbital skeletal changes which occur in neurofibromatosis, such as fibrous dysplasia and pseudoarthrosis, add support to the notion that many of the bony changes[healio.com] Megalocornea with glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital malformation of eye, unspecified Inclusion term(s): Congenital anomaly of[icd10coded.com]

  • Renal Tubular Acidosis

    Lowe's syndrome — A rare inherited disorder that is distinguished by congenital cataracts, glaucoma, and severe mental retardation.[medical-dictionary.thefreedictionary.com] Favus, Genetic Diagnosis of Skeletal Dysplasias, Genetic Diagnosis of Endocrine Disorders, 10.1016/B978-0-12-800892-8.00012-9, (173-189), (2016). Thierry O.[doi.org] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

  • Cockayne Syndrome

    In 30% of cases, structural abnormalities of the eyes and early or congenital cataracts are present.[ijpd.in] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] Prenatal growth failure, congenital structural eye anomalies, severe neurologic dysfunction from birth, and the presence of cataracts within the first 3 years of life are[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    Congenital cataracts or other structural anomalies of the eye may be present.[ncbi.nlm.nih.gov] Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([ncbi.nlm.nih.gov] Dysplasias and Disorders Panel.[blueprintgenetics.com]

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