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216 Possible Causes for Cafe-Au-Lait Spots, Hearing Impairment

  • Rubinstein-Taybi Syndrome

    […] uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait[rarediseases.info.nih.gov] Many children have vision problems and hearing impairments as a result of infections, attributable to an increased sensitivity to infection.[mun-h-center.se] spot 0000957 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Chorioretinal dystrophy 0001135 Coloboma Notched pupil 0000589 Deeply set eye Deep set[rarediseases.info.nih.gov]

  • Waardenburg Syndrome Type 2E

    Waardenburg syndrome type 2E Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anosmia White eyebrow Abnormality of the integument Cafe-au-lait[familydiagnosis.com] Products Conditions Hearing impairment Waardenburg syndrome MITF - Waardenburg syndrome type 2A Turnaround time Complete analysis: 8 weeks / Targeted analysis: 4 weeks Performing[order.radboudumc.nl] impairment ; White eyebrow ; White eyelashes ; White forelock Associated Genes SOX10 (Withdrawn symbols: DOM, WS2E, WS4 ) Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21[mousephenotype.org]

  • LEOPARD Syndrome

    au lait spots.[ncbi.nlm.nih.gov] impairment.[ncbi.nlm.nih.gov] Case 4 had moderate hearing impairment. Point mutation of the PTPN11 gene was found in all patients. CONCLUSION: LS has typical skin manifestations.[ncbi.nlm.nih.gov]

  • McCune-Albright Syndrome

    McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP).[ncbi.nlm.nih.gov] MAIN OUTCOME MEASURE: Association of optic neuropathy and hearing impairment to age at GH excess diagnosis/treatment was measured.[ncbi.nlm.nih.gov] Paris-Sud, Inserm U693, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. [email protected] Abstract The McCune-Albright syndrome is characterized by cafe-au-lait[ncbi.nlm.nih.gov]

  • Polyostotic Fibrous Dysplasia

    When melanotic pigmentation (cafe-au-lait spots) and multiple endocrine hyperfunction are additionally associated it is referred to as albright syndrome ICD-9-CM Volume 2[icd9data.com] Osseous fractures occurred only during childhood, while hearing impairment due to temporal bone involvement occurred in four of six adults.[doi.org] au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : 75% abnormal vaginal bleeding: 25% coast of Maine cafe-au-lait spots predominantly on[radiopaedia.org]

  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[medical-dictionary.thefreedictionary.com] Treating hearing problems If you have NF2, your hearing will probably become impaired to such an extent that you'll require treatment.[web.archive.org] Neurofibromatosis type I is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin.[flybase.org]

  • Neurofibromatosis-Noonan Syndrome

    Multiple pigmented spots of size 1 to 5 mm were noticed all over the body and cafe-au-lait spots ranging from 1 to 4 cm were also present.[jpgmonline.com] External ear anomalies and hearing impairment in Noonan Syndrome. Int J Pediatr Otorhinolaryngol . 2015 Jun. 79 (6):874-8. [Medline] . National Institutes of Health.[emedicine.medscape.com] NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas.[genome.jp]

  • Familial Progressive Hyper- and Hypopigmentation

    […] of Familial progressive hyperpigmentation with or without hypopigmentation Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the integument Cafe-au-lait[familydiagnosis.com] Type I Stickler syndrome has multiple systemic features such as cleft palate, hearing impairment, premature arthritis, micrognathia, kyphoscoliosis, and some signs such as[disorders.eyes.arizona.edu] '-au-lait spots, a single amino-acid change in KITLG was reported.[ijdvl.com]

  • Neurofibroma

    Some of the characteristic findings are: Type I • Skin findings: Freckles (cafe-au-lait spots) on the skin.[aapos.org] All hearing-impaired people have the opportunity to communicate with their medical care team at NYU Langone with the assistance of signing facilitators or computer-assisted[nyulangone.org] Carriers of this autosomal dominant trait are prone to the occurrence of benign and malignant tumors which present with cafe-au-lait spots, fibromatous tumors in the skin[symptoma.com]

  • Acoustic Neuroma

    Skin nodules and other lesions that include dermal neurofibromas and cafe-au-lait spots (greater than 60 percent of cases in one series).[consensus.nih.gov] OBJECTIVE: In patients with acoustic neuroma, the site and severity of hearing impairment are important in discussing surgical approaches.[ncbi.nlm.nih.gov] It would be pointed out that the delayed facial plasy has favourable prognosis, while the hearing impairment may recover with a greater difficulty even after an antiviral[ncbi.nlm.nih.gov]

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