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741 Possible Causes for Chorioretinopathy, Hearing Impairment

  • Neonatal Adrenoleukodystrophy

    Eye findings include chorioretinopathy, optic nerve dysplasia and cataracts.[orpha.net] Hearing aids are provided to those with hearing impairment, and cochlear implants considered when hearing loss is profound.[orpha.net]

  • Uveomeningoencephalitic Syndrome

    Fluorescein angiogram revealed multifocal expansile dots of leakage, consistent with multifocal central serous chorioretinopathy.[scholars.northwestern.edu] Ocular findings may be accompanied by lymphocytic meningitis, hearing impairment and/or tinnitus in a variable proportion of patients.[doi.org] Behcet's disease (BD), Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis (AAU), and birdshot chorioretinopathy (BCR) are examples of noninfectious forms of uveitis[ncbi.nlm.nih.gov]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Microcephaly seizures mental retardation heart disorders Microcephaly sparse hair mental retardation seizures Microcephaly syndactyly brachymesophalangy Microcephaly with chorioretinopathy[en.wikipedia.org] impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Downslanted palpebral fissures[rarediseases.info.nih.gov] Microcephaly chorioretinopathy recessive form[?] Microcephaly cleft palate autosomal dominant[?] Microcephaly deafness syndrome[?][encyclopedia.kids.net.au]

  • Acrootoocular Syndrome

    , retinal angiomatous proliferation, parafoveal telangiectasia Others such as choroidal hemangioma, retinal hamartoma, choroidal melanoma, chronic central serous chorioretinopathy[eophtha.com] impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent[malacards.org] 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Deafness Syndrome microcephaly with or without chorioretinopathy, lymphedema, or[rgd.mcw.edu]

  • Susac Syndrome

    We report central serous chorioretinopathy (CSC) in a patient with Susac syndrome.[ncbi.nlm.nih.gov] impairment.[ncbi.nlm.nih.gov] Central serous chorioretinopathy in Susac syndrome.[allmedx.com]

  • Toxoplasmosis

    CHORIORETINOPATHY AND TOXOPLASMOSIS, AN EPIDEMIOLOGIC STUDY ON A SOUTH PACIFIC ISLAND. Arch Ophthalmol. 1964 Jan; 71 :63–68. [ PubMed ] [ Google Scholar ] FAIR JR.[pubmedcentral.nih.gov] Chorioretinopathy associated with other evidence of cerebral damage in childhood; a syndrome of unknown etiology separable from congenital toxoplasmosis.[doi.org]

  • Oculootoradial Syndrome

    1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Deafness Syndrome microcephaly with or without chorioretinopathy, lymphedema, or[rgd.mcw.edu] Names and Terminology for IVIC syndrome Other Names : Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia[familydiagnosis.com] […] and 246: dystrophy syndrome Olivopontocerebe Page 247 and 248: Type 2B2 degraded tetracycline Pree Page 249 and 250: defects dysmorphia pelvic dysplasia Page 251 and 252: Chorioretinopathy[yumpu.com]

  • Usher Syndrome Type 1H

    Retinal dystrophy and obesity,616188 TUBGCP4Microcephaly and chorioretinopathy, autosomal recessive, 3616335 TULP1Leber congenital amaurosis 15613843 TULP1Retinitis pigmentosa[qgenomics.com] OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa[malacards.org] [from GeneReviews ] From OMIM Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech,[ncbi.nlm.nih.gov]

  • Bonnemann-Meinecke-Reich Syndrome

    […] indication of following conditions: Aceruloplasminemia Adrenoleukodystrophy Alstrom disease Asphyxiating Thoracic Dystrophy Bonneman-Meinecke-Reich syndrome CDG syndrome type 1A Chorioretinopathy[altiusdirectory.com] impairment SOURCES: ORPHANET OMIM MENDELIAN More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 High match 1P36 DELETION SYNDROME 1p36 deletion[mendelian.co] Birdshot chorioretinopathy[?] Birt-Hogg-Dube syndrome[?] Bixler Christian Gorlin syndrome[?] Bjornstad syndrome[?] Bladder neoplasm[?] Blaichman syndrome[?] Blastoma[?][encyclopedia.kids.net.au]

  • Spastic Paraparesis-Deafness Syndrome

    , or mental retardation (MCLMR) [MIM: 152950 ] P52732 non-pleiotropic VAR_067831 p.Ser235Cys Disease - - Microcephaly with or without chorioretinopathy, lymphedema, or mental[sbg.bio.ic.ac.uk] […] of one side of body 0004374 Hyperreflexia Increased reflexes 0001347 Impaired pain sensation Decreased pain sensation 0007328 Sensorineural hearing impairment 0000407 Spastic[rarediseases.info.nih.gov] […] syndrome Chromosome 1q41-q42 deletion syndrome Acrocapitofemoral dysplasia Hereditary geniospasm Craniometaphyseal dysplasia, autosomal dominant Lymphedema, microcephaly and chorioretinopathy[checkrare.com]

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