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14 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, No Heterochromia Irides

  • Tietz Syndrome

    irides.[jmg.bmj.com] From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like[wikidata.org] Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.[orpha.net]

  • Waardenburg Syndrome Type 2

    None had a critical visual deficit, and all had partial heterochromia irides and retinal hypopigmentation.[ncbi.nlm.nih.gov] It is congenital, sensorineural, and usually non-progressive. It may be unilateral or bilateral, and can vary in degree from slight to profound.[indianjotol.org] Ocular examination showed sparse eyebrows medically and total heterochromia irides.[ijpd.in]

  • Tricho-Retino-Dento-Digital Syndrome

    White forelock (poliosis) occurs in 20-40% of patients with WS1 or WS2, and heterochromia irides occur in 30% of patients with both types.[emedicine.medscape.com] Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Ears]; Bilateral congenital profound sensorineural hearing loss; [Mouth]; Diastema; [Teeth]; Oligodontia Ehlers-Danlos[findzebra.com]

  • Retinitis pigmentosa 40

    In patients with light colored irides the affected eye turns lighter in color; in dark-colored irides stromal atrophy is more subtle, with flatness of iris crypts, a velvety[journalretinavitreous.biomedcentral.com] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] […] appearance of the stroma or inverse heterochromia, in which the affected eye turns darker [ 5 ].[journalretinavitreous.biomedcentral.com]

  • Ocular Albinism with Congenital Sensorineural Deafness

    irides), eyes with one iris having different colors (sectoral heterochromia irides), very pale or striking blue eyes skin: patchy hypopigmented lesions lateral displacement[radiopaedia.org] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.[mendelian.co] […] or partial heterochromia, and patchy or generalized hypopigmentation of the skin.[orpha.net]

  • Albinism-Deafness Syndrome

    irides), eyes with one iris having different colors (sectoral heterochromia irides), very pale or striking blue eyes skin: patchy hypopigmented lesions lateral displacement[radiopaedia.org] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on[zfin.org] irides (differently colored eyes), partial heterochromia irides (variations of color within an iris), and hypoplastic blue irides.[dermatologyadvisor.com]

  • Sensorineural Deafness with Dilated Cardiomyopathy

    On examination, patient had heterochromia irides [Figure 1]. Rest of the ophthalmological evaluation was normal. There was no coloboma of iris.[indianjotol.org] , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] (b) HRCT temporal bone at the level of superior semicircular canals showing short and stout superior semicircular canal Click here to view In view of heterochromia irides[indianjotol.org]

  • Hirschsprung Disease - Deafness - Polydactyly Syndrome

    irides (25%) Circumscribed albinism of the frontal head hair or white forelock (20%) Sensorineural deafness, unilateral or bilateral (25%) Type II WS is differentiated by[emedicine.medscape.com] irides and brilliant blue eyes; and congenital sensorineural hearing loss.[mendelian.co] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com]

  • Waardenburg Syndrome Type 2E

    […] or in different regions of the same iris (heterochromia irides); and/or patchy, abnormally light (depigmented) regions of skin (leukoderma).[rarediseases.org] sensorineural hearing loss (5).[arquivosdeorl.org.br] […] iridum (irides of different color) Partial or segmental heterochromia (two different colors in same iris, typically brown and blue) Hypoplastic blue irides, or brilliant[mhmedical.com]

  • Duane Retraction Syndrome Type 2

    irides - microphthalmos - cataract - crocodile tears - persistent pupillary membrane explain what the central defect aetiology of duane's syndrome is Defective Innervation[brainscape.com] Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss that is mild to moderate in low frequencies and severe to profound in higher frequencies,[healio.com] […] duane's face turn to affected side what is the AHP for a exo deviation in duane's face turn to unaffected side list 6 ocular associations of duane's syndrome - coloboma - heterochromia[brainscape.com]

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