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52 Possible Causes for Cataracts Usually Congenital, Congenital Eye Anomaly, Defective Osteogenesis

  • Congenital Rubella Syndrome

    Congenital rubella syndrome is characterized by the triad of deafness, cataract and cardiovascular malformations.[] .  Rate of organ anomalies in CRS 5.  The classic triad for congenital rubella syndrome is:  Sensorineural deafness (58% of patients)  Eye abnormalities especially pigmentary[] […] manifesting in infancy, resulting from rubella infection in utero and characterized by signs or symptoms from the following categories: Cataracts/congenital glaucoma, congenital[]

  • Stickler Syndrome

    Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive.[] […] syndrome Progressive familial intrahepatic cholestasis type 3 Osteogenesis imperfecta type V Mental retardation, X-linked 14 Megaepiphyseal dwarfism Methylmalonic acidemia[] The vitreous showed distinct abnormalities consistent with congenital vitreous anomaly of type 1 Stickler syndrome.[]

  • Congenital Malformation

    Four types of congenital cataracts, such as anterior polar, lamellar, polymorphic and total Red stethoscope and heart shape with plaster on it.[] Medication, either oral or intravenous, is also used to treat osteogenesis imperfecta. 87.  Vascular naevi:These defects in the development of the skin can be divided into[] 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[]

  • Rieger Syndrome

    Microphthalmos - small eye without normal function (eg, cataract, coloboma, congenital cyst).[] Several forms of osteogenesis imperfecta (see, e.g., OI1; 166200) are also caused by mutations in the COL1A1 and COL1A2 genes.[] Q13.4 Other congenital corneal malformations Q13.8 Other congenital malformations of anterior segment of eye Q13.81 Rieger's anomaly Q13.89 Other congenital malformations[]

  • Warburg Micro Syndrome 3

    The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter Full text of GeneReview (by section):[] […] type 2, Terminal osseous dysplasia with pigmentary defects FLNB Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia[] (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 Endo T.[]

  • Autosomal Recessive Congenital Cataract 5

    Congenital cataract is both clinically and genetically heterogeneous; isolated congenital cataract is usually inherited as an autosomal dominant trait although autosomal recessive[] Type-VI : Retinal detachment, corneal rupture Osteogenesis Imperfecta Connective tissue disease Defects in Collagen Type I formation.[] Definition PHPV is a congenital anomaly of the eye that results following failure of embryological primary vitreous and hyaloid vasculature to regress.[]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Walker-Warburg Syndrome Clinical Characteristics Ocular Features: The eyes are usually small and contain either retinal dysplasia or a congenital retinal detachment.[] Several forms of osteogenesis imperfecta (see, e.g., OI1; 166200) are also caused by mutations in the COL1A1 and COL1A2 genes.[] WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Congenital[]

  • Coats Plus Syndrome

    Dislocated lens (usually superiorly and nasally) Severe refractive errors Megalocornea (front third of the eye is larger than normal) Cataracts Uveal colobomas Secondary glaucoma[] , partial, with heterotaxy syndrome Atrioventricular septal defect, susceptibility to, 2 (AVSD2) CRTAP Osteogenesis imperfecta, type IIB (OI2B) Osteogenesis imperfecta, type[] Spherophakia (congenital bilateral anomaly in which the lenses of the eye are small, spherical and prone to subluxation Ectopia lentis (partial displacement of the lens) which[]

  • Congenital Primary Aphakia

    Congenital cataracts usually develop as a result of infection of the fetus or genetic reasons.[] […] imperfecta[L] *dysostosis [異骨症] 【骨欠損】*bone defect/*bony defect 【骨減少症】【骨希薄】*osteopenia 【骨原性肉腫】*osteogenic sarcoma ( 骨肉腫) 【骨硬化症】*osteosclerosis 【骨硬化性貧血】*osteosclerotic anemia[] Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related MDDGA5 613153[]

  • Syndromic Microphthalmia Type 10

    Congenital glaucoma, usually detected in early childhood, is a broad group of disorders that present with elevated intraocular pressure.[] , NTD, OI, osteogenesis imperfecta, placenta accreta, placenta percreta, posterior fossa, proboscis, sagittal suture, scoliosis, septo-optic dysplasia, skeletal dysplasia,[] Congenital or developmental anomaly in which the eyeballs are abnormally small.[]