Create issue ticket

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

  • Hallermann-Streiff Syndrome

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

  • Stickler Syndrome

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

  • Congenital Cataract

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

  • 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[] Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation Trigonobrachycephaly, Bulbous Bifid[] Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Congenital malformations of eye H00662 Ectopia lentis Human diseases in ICD-11[]

  • 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.[] , And Sprengel Anomaly, Included Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Nevoid Basal Cell Carcinoma Syndrome BCNS NBCCS 109400 Genetic Test[] Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor development in the first year of life, followed[]

  • Congenital Malformation

    Four types of congenital cataracts, such as anterior polar, lamellar, polymorphic and total Red stethoscope and heart shape with plaster on it.[] Learn more information about the International Skeletal Dysplasia Registry at Cedars-Sinai.[] 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[]

  • 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.[] 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[] Megalocornea with glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital malformation of eye, unspecified Inclusion term(s): Congenital anomaly of[]

  • Renal Tubular Acidosis

    Lowe's syndrome — A rare inherited disorder that is distinguished by congenital cataracts, glaucoma, and severe mental retardation.[] 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.[] 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[]

  • Cockayne Syndrome

    In 30% of cases, structural abnormalities of the eyes and early or congenital cataracts are present.[] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] 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[]

  • Seckel Syndrome

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

Similar symptoms