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192 Possible Causes for Brushfield Spot, Hearing Impairment

  • Down Syndrome

    We report a patient with non-Down syndrome AML, also known as AMKL, with monosomy 7, who was also obese and had a hearing impairment and mental retardation.[ncbi.nlm.nih.gov] 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] The management of significant co-morbidities in children with DS can delay initial diagnosis of hearing impairment and assessment of suitability for CI can likewise be challenging[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment.[ncbi.nlm.nih.gov] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Furthermore, Zellweger syndrome causes hearing impairment, profound mental retardation and developmental delay.[ic.steadyhealth.com]

  • Spastic Paraparesis-Deafness Syndrome

    […] 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] ) spots overlying the iris of the eye.[diapedia.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]

  • Oculopalatoskeletal Syndrome

    spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] […] palpebral fissures, chorioretinal dystrophy, myopia, decreased visual acuity, optic atrophy Down syndrome (190685) Upslanting palpebral fissures, epicanthal folds, iris Brushfield[clinicalgate.com]

  • High Myopia-Sensorineural Deafness Syndrome

    impairment 0012715 Proteinuria High urine protein levels Protein in urine [ more ] 0000093 Showing of 7 Last updated: 5/1/2019 If you need medical advice, you can look for[rarediseases.info.nih.gov] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] Ocular features include Brushfield's spots (small white spots on the periphery of the iris which are found sometimes in unaffected children).[patient.info]

  • Acrootoocular Syndrome

    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] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[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]

  • Partial Monosomy 18q

    Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] Two cases with impaired hearing are presented in this paper including one case with complex external ear and middle ear malformations.[cambridge.org] spots Skin dimples 23 Cervical rib Broad nasal bridge 23 Extra rib Simian crease 23 Stubby fingers Abnormal placement of 2nd toe 21 hypertelorism Strabismus 20 Cataracts[labmed.hallym.ac.kr]

  • Baraitser-Winter Syndrome 1

    Roux, Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients, Scientific Reports, 10.1038/s41598-017-16846-9, 7, 1,[doi.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] impairment Rendtorff, ND; Zhu, M; Fagerheim, T A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) Wijk, E; Krieger, E; Kemperman[deepdyve.com]

  • Drayer Syndrome

    impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365 10 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263 11 abnormality of the dentition[malacards.org] Spots) • Varying Degrees of Mental and Growth Retardation • Dysplasia of the Pelvis • Short Broad Hands, Hypoplasia of Middle Phalanx of 5 Th Finger, Simian Crease • High[quizlet.com] […] and speech impairment {313; 335; 350} 15- Uc-9 (13) female/ 2y PBL n.a. 47,XX, mar[16]/ 46,XX[14] inv dup(13;15)(p11.2p11.2) cep probe moderate psychomotor retardation, slight[ssmc-tl.com]

  • Gorlin Psaume Syndrome

    spots, simian crease Trisomy 13 (patau): cleft lip palate, polydactyly, capillary haemangioma trisomy 18 (Edward): hypoplastic nails, small mouth, short sternum Core binding[de.slideshare.net] Children with OFD II often have hearing loss due owing to impaired conductivity in the middle ear.[socialstyrelsen.se] Coxa Vara, And Tarsal Synostosis Scott-Taor Syndrome Small Patella Syndrome ICPPS 147891 Genetic Test Registry IVIC Syndrome Oculootoradial Syndrome Radial Ray Defects, Hearing[ukgtn.nhs.uk]

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