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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[] Many children have vision problems and hearing impairments as a result of infections, attributable to an increased sensitivity to infection.[] 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[]

  • 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[] 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.[] NF1 is characterized by “cafe-au-lait spots” (light brown skin patches) as well as neurofibromas (benign skin tumors).[]

  • 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[] However, infants may present with a single defect, with hearing impairment being the most common single defect.[] Symptoms Café au lait spots In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. Systematic References: 1.[]

  • 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[] […] 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[] […] 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[]

  • 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[] 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[] 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[]

  • 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).[] PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment.[] What are the size and number criteria for cafe-au-lait spots used for diagnosing neurofibromatosis? 2.[]

  • McCune-Albright Syndrome

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

  • Oculootoradial Syndrome

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

  • 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[] Products Conditions Hearing impairment Waardenburg syndrome PAX3 - Waardenburg syndrome type 1/3 Turnaround time Complete analysis: 8 weeks / Targeted analysis: 4 weeks Performing[] impairment ; White eyebrow ; White eyelashes ; White forelock Associated Genes SOX10 (Withdrawn symbols: DOM, WS2E, WS4 ) Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21[]

  • Fanconi Anemia

    Other abnormalities seen are skin pigmentation (Cafe au lait spot), small head (microcephaly), small eyes (microphthalmia), learning disabilities, failure to gain weight,[] Less common abnormalities may also be associated with Fanconi anemia including abnormalities of the middle ears resulting in hearing impairment (conductive hearing loss).[] 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[]

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