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84 Possible Causes for Brushfield Spot, Pallor of Optic Disc

  • Zellweger Syndrome

    disc pallor 0000543 Patent ductus arteriosus 0001643 Pigmentary retinopathy 0000580 Posteriorly rotated ears Ears rotated toward back of head 0000358 Prolonged neonatal jaundice[rarediseases.info.nih.gov] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org]

  • Down Syndrome

    disc pallor (7.6%).[dx.doi.org] Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[medterms.com] 21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels, foveal hypoplasia, or retinal pigment epithelium hyperplasia (32.2%), and optic[dx.doi.org]

  • Foster-Kennedy Syndrome

    The original description of the Foster Kennedy syndrome included the clinical triad of optic disc pallor in one eye, optic disc edema in the other eye, and reduced olfaction[ncbi.nlm.nih.gov] There can also be a small fold of skin on the inside of the eye (epicanthic fold) and small white patches on the edge of the iris of the eye (Brushfield spots).[betterhealth.vic.gov.au] However, the right eye showed slight temporal pallor of the optic disc and a superior temporal field defect was found.[ncbi.nlm.nih.gov]

  • Optic Atrophy-Intellectual Disability Syndrome

    (Also known as/Synonyms) Atrophic Optic Nerve Optic Disc Pallor Excessive Optic Neuropathy What is Optic Nerve Atrophy?[dovemed.com] spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.aao.org] disc pallor Very Common - Between 80% and 100% cases Tapered finger Very Common - Between 80% and 100% cases Other less frequent symptoms Patients with NR2F1 gene alterations[mendelian.co]

  • Autosomal Dominant Optic Atrophy and Cataract

    Optic disc appearance of OPA1 -positive two patients showing bilateral prominent temporal wedge of pallor ( upper ) and total disc pallor ( lower ). ( C ) Optic disc appearance[iovs.arvojournals.org] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] Results: All patients presented bilateral decrease in best-corrected visual acuity and temporal pallor of the optic disc.[archive.org]

  • Kaufman Oculocerebrofacial Syndrome

    disc pallor 0000543 Ovoid vertebral bodies 0003300 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Single transverse palmar crease 0000954 Sparse and[rarediseases.info.nih.gov] spots; Cloudy cornea; Cataracts; Pigmentary retinopathy; Optic nerve dysplasia Mouth: Cleft palate; Mandible:Micrognathia Ears: Low set; Helix abnormal Limbs: Cubitus valgus[findzebra.com] disc pallor Not very common - Between 30% and 50% cases Microdontia Commonly - More than 50% cases Specific learning disability Not very common - Between 30% and 50% cases[mendelian.co]

  • Isolated Congenital Sclerocornea

    […] of optic disc, cataracts/AD, AR, XLR/Numerous/Multiple RETINOBLASTOMA/Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.org] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org] Progressive retinal degeneration, night blindness, constricted visual fields, dyschromatopsia, cystoid macular edema, pigment clumps in retina, attenuated retinal vessels, waxy pallor[eyewiki.org]

  • Infantile Choroidocerebral Calcification Syndrome

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Myopia and Optic disc pallor, related diseases and genetic[mendelian.co] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] […] marrow hypocellularity Pancytopenia Nail dysplasia Cirrhosis Nail dystrophy Thrombocytopenia Growth delay Cogwheel rigidity Shuffling gait Lewy bodies Abnormality of the optic[mendelian.co]

  • Sorsby Syndrome

    […] of optic disc, cataracts AD, AR, XLR Numerous Multiple RETINOBLASTOMA Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.aao.org] […] of optic disc, cataracts/AD, AR, XLR/Numerous/Multiple RETINOBLASTOMA/Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.org] spots, upslanting palpebral fissures, epicanthal folds Most cases not inherited Trisomy 21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.aao.org]

  • Spastic Ataxia with Congenital Miosis

    […] atrophy [cupping] of optic disc 377.15 Partial optic atrophy Temporal pallor of optic disc 377.16 Hereditary optic atrophy Optic atrophy: dominant hereditary Leber's 377.2[theodora.com] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] Ocular signs include epicanthus, blepharoconjunctivitis, cataract, keratoconus, nystagmus and iris spots (Brushfield's).[medical-dictionary.thefreedictionary.com]

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