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19 Possible Causes for Cataracts Usually Congenital, Congenital Eye Anomaly, Swelling of the Finger

  • Oculocerebrorenal Syndrome

    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] The classical diagnostic triad includes: Congenital cataracts Neonatal or infantile hypotonia with subsequent mental impairment Renal tubular dysfunction progressing to chronic[patient.info] The diagnosis is initially suggested by uniformly present congenital cataract, while the recognition of cerebral manifestations is based on a comprehensive neurological examination[news-medical.net]

  • Congenital Syphilis

    Progression of untreated congenital syphilis can result in meningitis, hydrocephalus, and cranial nerve injuries. Chorioretinitis and cataracts may develop.[clinicaladvisor.com] A case of 4-month-old child who was presented with painless swelling of finger and toes is reported.[ncbi.nlm.nih.gov] Pneumonia is common and usually occurs as bilateral fluffy infiltrates.[clinicaladvisor.com]

  • Glaucoma

    Congenital cataracts had been present, according to the history, since early childhood and were usually accompanied by nystagmus.[doi.org] This can be recognized with the index fingers. The hard eye will resist finger pressure. In severe cases there will be pain.[doi.org] CASE REPORT We report the case of a 4-year-old boy with AGS who had multiple congenital anomalies in the eyes.[ncbi.nlm.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    (cone-shaped cornea) Congenital cataracts Blepharitis Conjunctivitis Lacrimal duct obstruction Retinal abnormalities The following may be helpful for families: Hearing and[medicalhomeportal.org] Adolescent girls may experience increased swelling of the hands and feet during menstruation for several months.[calvarypediatrics.com] WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe[mendelian.co]

  • Congenital Hemihypertrophy

    Age Congenital glaucoma and aniridia usually are not associated at birth. The glaucoma develops at either the preteen or the teenage level.[emedicine.medscape.com] in bands / reticular skin hyperpigmentation - Kyphosis - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lymphangioma / lymphatic malformations - Macrodactyly / fingers[csbg.cnb.csic.es] (congenital with brain and eye anomalies), type A, 10, 615041 B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11), 615181[gsdseq.ir]

  • Leber Congenital Amaurosis

    Electroretinogram (ERG) responses are usually nonrecordable.[ncbi.nlm.nih.gov] Investigations Visual acuity is usually reduced to counting fingers. Visual field testing shows an enlarging central scotoma.[patient.info] 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]

  • Greenberg Dysplasia

    Other abnormalities may include congenital cataracts and/or microphthalmia and renal or cardiac malformations.[doi.org] […] pelvis bone ossification 0009106 Abnormally ossified vertebrae Abnormal bone maturation of vertebra 0100569 Anterior rib punctate calcifications 0006619 Brachydactyly Short fingers[rarediseases.info.nih.gov] […] with brain and eye anomalies) ISPD Muscular dystrophy-dystroglycanopathy KBTBD13 Nemaline myopathy KLHL40 Nemaline myopathy LAMA2 Muscular dystrophy, congenital merosin-deficient[genda.com.ar]

  • Spondylo-Ocular Syndrome

    Features include: Ophthalmologic Congenital or early-onset cataracts.[en.wikibooks.org] […] of entire fingers and toes may be associated (sausage digits) Involvement of DIP joints of toes think of Reiters or psoriasis Backache and stiffness secondary to sacroiliitis[flinders.edu.au] Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive.[jmg.bmj.com]

  • Congenital Macroglossia

    Only a fifth of the congenital cataracts cases are linked to infections such as rubella, toxoplasmosis, or CMV [ 20 ].[intechopen.com] […] clinodactyly Cervical vertebrae: Malformed Femoral necks: Short, Broad Teeth: Absent incisors Deafness: Conductive Scalp: Baldness CNS: Mental retardation, mild Swellings[neuromuscular.wustl.edu] They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome[mendelian.co]

  • Congenital Ectropion Uveae

    Aniridia Aniridia is a congenital anomaly that is characterized by the absence of the iris. The condition is usually bilateral.[lecturio.com] The eye will feel rock hard, and you can actually palpate the difference between the eyes with your fingers.[timroot.com] Published on Jun 22, 2015 giving detail about congenital anomalies in the eye.... 2 Comments 63 Likes Statistics Notes Views Total views 11,431 On SlideShare 0 From Embeds[slideshare.net]

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