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13 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Retinitis Pigmentosa, Shortening of the Metatarsals

  • Refsum Disease

    Skeletal radiography showed bilateral shortening of the fourth metatarsal bones. Funduscopy and electroretinography confirmed the presence of retinitis pigmentosa.[jnnp.bmj.com] Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations[ncbi.nlm.nih.gov]

  • AMACR Deficiency

    […] metacarpals and metatarsals, and impaired hearing.[ncbi.nlm.nih.gov] , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] Retinal changes have been reported in five patients and vary from retinal pigmentary epithelial changes to retinitis pigmentosa [7, 9, 11, 12, 14].[ojrd.biomedcentral.com]

  • Infantile Refsum Disease

    […] metacarpals and metatarsals, and impaired hearing.[ncbi.nlm.nih.gov] Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging[ncbi.nlm.nih.gov] IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor[ncbi.nlm.nih.gov]

  • Trichorhinophalangeal Syndrome Type 1 and 3

    […] of all phalanges, metacarpals and metatarsal bones.[orpha.net] Usher syndrome type I should be suspected in individuals with: Congenital (i.e., prelingual) profound bilateral sensorineural hearing loss No significant vestibular responses[centogene.com] Usher syndrome is a genetic condition causing both hearing loss and vision loss resulting from a condition called Retinitis Pigmentosa (RP).[ohsu.edu]

  • Autosomal Dominant Deafness 33

    shortening, Stickler syndrome type 1 AD 180 561 COL4A3 Alport syndrome, Hematuria, benign familial AD/AR 123 264 COL4A4 Alport syndrome AD/AR 110 232 COL4A5 Alport syndrome[blueprintgenetics.com] […] born with profound congenital deafness.[docslide.net] […] recessive retinitis pigmentosa (ARRP) Autosomal dominant deafness 11 (DFNA11) Autosomal dominant deafness 8/12 (DFNA8/12) Autosomal dominant deafness 22 (DFNA22) Autosomal[grenada.lumc.nl]

  • Schneckenbecken Dysplasia

    Shortening ; 24.8 Spondyloepiphyseal Dysplasia with Premature Onset Arthrosis ; 24.9 Vitreoretinopathy with phalangeal epiphyseal dysplasia ; 24.10 Stickler Dysplasia ; 25[bookdepository.com] Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized[amp.pharm.mssm.edu] 3 300029 RPGR Retinitis pigmentosa 39 613809 USH2A Retinitis pigmentosa 40 613801 PDE6B Retinitis pigmentosa 43 613810 PDE6A Retinitis pigmentosa 59 613861 DHDDS Retinitis[genlab.gr]

  • Sensorineural Deafness with Dilated Cardiomyopathy

    shortening, Stickler syndrome type 1 AD 180 561 COL4A3 Alport syndrome, Hematuria, benign familial AD/AR 123 264 COL4A4 Alport syndrome AD/AR 110 232 COL4A5 Alport syndrome[blueprintgenetics.com] , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] One case of atypical retinitis pigmentosa and variant retinitis punctata albescens. [89] Cardiopulmonary: Dilated cardiomyopathy. [89] Cardiac failure was the leading cause[autoinflammatory-search.org]

  • Craniodiaphyseal Dysplasia

    (Torrance type) Hypochondrogenesis SED (congenital) SEMD (Strudwick type) Kniest dysplasia Spondyloperipheral dysplasia Mild SED with premature onset arthrosis SED with metatarsal[emedicine.medscape.com] Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized[amp.pharm.mssm.edu] pigmentosa-deafness syndrome Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial[checkrare.com]

  • Ocular Albinism with Congenital Sensorineural Deafness

    shortening, Stickler syndrome type 1 AD 180 561 COL4A3 Alport syndrome, Hematuria, benign familial AD/AR 123 264 COL4A4 Alport syndrome AD/AR 110 232 COL4A5 Alport syndrome[blueprintgenetics.com] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.[mendelian.co] pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X-linked inheritance?[documentslide.com]

  • Perrault Syndrome Type 2

    shortening, Stickler syndrome type 1 AD 180 561 COL4A3 Alport syndrome, Hematuria, benign familial AD/AR 123 264 COL4A4 Alport syndrome AD/AR 110 232 COL4A5 Alport syndrome[blueprintgenetics.com] Clinical findings Sensorineural hearing loss (SNHL) in men and women.[ncbi.nlm.nih.gov] pigmentosa AR WFS1 606201 Progressive sensorineural NSHL, Wolfram-like syndrome AD Wolfram syndrome AR WHRN 607928 Sensorineural NSHL Usher syndrome type 2 AR[arupconsult.com]

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