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13 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Syndactyly

  • Usher Syndrome Type 1K

    The fundoscopic finding of both eyes showed typical pigmentary degeneration with multiple bone spicule pigmentations in over the entire retina, attenuated retinal vessels,[mafiadoc.com] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] […] degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma Microphthalmia syndromic 10 Leber congenital amaurosis Blepharophimosis with ptosis, syndactyly[checkrare.com]

  • Alstrom Syndrome

    The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of peripheral and midperipheral fundus, coarser pigmentary changes with a "bone-spicule" configuration[ncbi.nlm.nih.gov] Hearing All subjects showed a bilateral symmetrical moderate to profound sensorineural hearing loss. The onset of hearing loss was either congenital or early childhood.[journal.frontiersin.org] Most children have characteristic wide, thick, flat feet, and short stubby fingers and toes with no polydactyly or syndactyly.[orpha.net]

  • Retinitis pigmentosa 40

    Symptoms - Retinitis pigmentosa Mottling of the retinal pigment epithelium with black bone-spicule pigmentation is typically indicative (or pathognomonic) of retinitis pigmentosa[checkorphan.org] 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] […] balance problems Laurence-Moon Syndrome or Bardet-Biedl Syndrome; obese, deaf, hypogonadism, dwarfism, renal failure and hepatic fibrosis, diabetes, low IQ, polydactyly/syndactyly[medicaleducationleeds.com]

  • Refsum Disease

    Bone spicule retinopathy is a universal and usually early sign in RD.[doi.org] 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] Epiphyseal dysplasia results in syndactyly and a characteristic shortening of the fourth toe, which is diagnostically useful (8).[path.upmc.edu]

  • Schneckenbecken Dysplasia

    […] overgrew the cartilage, producing spicules.[documents.tips] 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] Syndactyly, Malik-Percin type Syndactyly of toes, telecanthus, ano- and renal malformations (STAR) syndrome Syndactyly type Lueken Oculodentodigital dysplasia Syndactyly[emedicine.medscape.com]

  • Usher Syndrome Type 3B

    These include pigment dispersion, which means that some parts appear lighter than others, followed by "bone spicules" which are little jagged spots.[boystownhospital.org] 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] Genomics 47: Green AJ, Sandford RN, Davison BCC An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.[docplayer.net]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    The retinal picture resembles retinitis pigmentosa with ‘bone spicule’ pigment clumps, vascular attenuation, and pale optic nerve heads.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract Ansell Bywaters Elderking Syndrome Aortic Arch Anomaly with Peculiar Facies and Mental Retardation Aphalangia Syndactyly[rgd.mcw.edu]

  • Cataract - Ataxia - Deafness

    Bone-spicule-shaped pigment clumping may be present in the midperiphery while the optic disk is often pale and the retinal vessels are attenuated.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com] , Type III Ring And Little Finger Syndactyly Syndactyly Of Fingers IV And V SDTY3 186100 Genetic Test Registry UV-Sensitive Syndrome 1 UVSS1 600630 Genetic Test Registry UV-Sensitive[ukgtn.nhs.uk]

  • Trichorhinophalangeal Syndrome Type 1 and 3

    The optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, called bone spicules (double arrows).[medicinenet.com] 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] She presented with brachydactyly, radial deviation of the index fingers of both hands and of the ring finger of the left hand, racket nails of the big toes, and syndactyly[jamanetwork.com]

  • Piebald Trait - Neurologic Defects Syndrome

    […] adjusting from light to dark Incoordination Axial myopia Coma Exudative retinal detachment Shallow anterior chamber Cystoid macular edema Retinal pigment epithelial atrophy Bone[mendelian.co] bilateral sensorineural hearing loss.[orpha.net] […] cephalodactyly, included) 13 101400 Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly, skull asymmetry and mild syndactyly[becomerich.lab.u-ryukyu.ac.jp]

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