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504 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]

  • Neurofibromatosis Type 2

    Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots[ncbi.nlm.nih.gov] In patients after the age of 30, in whom we observe multiple schwannomas without the concomitant hearing impairment, the diagnosis of schwannomatosis is very likely.[ncbi.nlm.nih.gov] NF1 is characterized by “cafe-au-lait spots” (light brown skin patches) as well as neurofibromas (benign skin tumors).[weillcornellbrainandspine.org]

  • Watson Syndrome

    From Wikidata Jump to navigation Jump to search No description defined WATSON SYNDROME; WTSN WATSON SYNDROME Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With[wikidata.org] However, infants may present with a single defect, with hearing impairment being the most common single defect.[cdc.gov] Symptoms Café au lait spots In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. Systematic References: 1.[moldiag.com]

  • Brain Neoplasm

    […] chromosome 17. pts have at least 2 of the following: 1. 5 cafe au lait spots 1 neurofibromas 3. axillary or inguinal freckling 4. optic glioma 5. 1 iris hamartomas (lisch[brainscape.com] […] the ability to hear, smell, or see (causing such symptoms as double vision and loss of vision) For example, a pituitary tumor may press on the nearby optic nerves (2nd cranial[merckmanuals.com] […] nodules) 6. bone lesions 7. first degree relative with NF1 COFFINS: cafe au lait spots, optic glioma, freckles, family hx, iris hamartomas, neurofibromas, skeletal lesions[brainscape.com]

  • Stickler Syndrome Type 2

    -can cause abnormal facial features and central nervous system problems Neurofibromatosis type 2 phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter[quizlet.com] impairment Huygen, PLM; Pennings, RJE; Cremers, CWRJ Hearing impairment in Stickler syndrome: a systematic review Acke, FR; Dhooge, IJ; Malfait, F; Leenheer, EM Effects of[deepdyve.com] impairment 0000407 30%-79% of people have these symptoms Cleft palate Cleft roof of mouth 0000175 Retinopathy Noninflammatory retina disease 0000488 Percent of people who[rarediseases.info.nih.gov]

  • Phakomatosis Pigmentokeratotica

    Hyperpigmented macules may be seen in NF1 & NF2 (cafe-au-lait spots), tuberous sclerosis (cafe-au-lait spots), and incontinentia pigmenti ("splashed paint" spots).[ophthalmologyreview.org] PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment.[link.springer.com] What are the size and number criteria for cafe-au-lait spots used for diagnosing neurofibromatosis? 2.[pediatriceducation.org]

  • McCune-Albright Syndrome

    People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters.[mountsinai.org] MAIN OUTCOME MEASURE: Association of optic neuropathy and hearing impairment to age at GH excess diagnosis/treatment was measured.[ncbi.nlm.nih.gov] Osseous fractures occurred only during childhood, while hearing impairment due to temporal bone involvement occurred in four of six adults.[doi.org]

  • Oculootoradial Syndrome

    […] type Thalassemia minor Congenital contractural Disseminated nonossifying fibromas arachnodactyly Contractures multiple with Episodic Ataxia syndrome in association with cafe-au-lait[yumpu.com] Names and Terminology for IVIC syndrome Other Names : Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia[familydiagnosis.com] […] microlithiasis Pulmonary capillary hemangiomatosis Pulmonary venoocclusive disease Pulmonic stenosis - brachytelephalangism - calcification of cartilages Pulmonic stenosis with 'cafe-au-lait[csbg.cnb.csic.es]

  • 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 PAX3 - Waardenburg syndrome type 1/3 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]

  • Fanconi Anemia

    Other abnormalities seen are skin pigmentation (Cafe au lait spot), small head (microcephaly), small eyes (microphthalmia), learning disabilities, failure to gain weight,[pediatriconcall.com] Less common abnormalities may also be associated with Fanconi anemia including abnormalities of the middle ears resulting in hearing impairment (conductive hearing loss).[web.archive.org] Pancytopenia is a rare, potentially life-threatening failure of haemopoiesis characterized by aplastic anemia that is associated with a variety of congenital abnormalities (Cafe-au-lait[dx.doi.org]

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