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668 Possible Causes for Hearing Impairment, Microphthalmos

  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[doi.org]

  • Microphthalmos

    Eleven individuals have extra ocular findings (i.e. cardiac defects, autism, septo-optic dysplasia, and hearing impairment), which indicate a syndromic condition.[iovs.arvojournals.org] The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected.[ncbi.nlm.nih.gov] Hearing impairment may be present in some cases. The teeth may be widely spaced or abnormally crowded.[rarediseases.org]

  • Osteoporosis-Pseudoglioma Syndrome

    blindness Osteoporosis-pseudoglioma syndrome (OPPG) This product is also part of the following panels: WES hearing impairment (97.9% **) WES Mendelian inherited disorders[order.radboudumc.nl] These include microphthalmos, cataracts, bilateral pseudogliomatous retinal detachments, and phthisis bulbi.[ncbi.nlm.nih.gov] Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental[orpha.net]

  • CHARGE Syndrome

    In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus.[ncbi.nlm.nih.gov] A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported.[ncbi.nlm.nih.gov] His mother was short and had hearing impairment, choanal atresia, and a coloboma.[ncbi.nlm.nih.gov]

  • Congenital Rubella Syndrome

    […] up till 20 kHz in a small group of severely hearing impaired rubella-children.[ncbi.nlm.nih.gov] To describe a case of central serous chorioretinopathy after trabeculectomy surgery in an eye with microphthalmos in the setting of congenital rubella syndrome.[ncbi.nlm.nih.gov] A 1-piece hydrophobic acrylic intraocular lens was implanted in the capsular bag in eyes without microphthalmos.[ncbi.nlm.nih.gov]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Downslanted palpebral fissures[rarediseases.info.nih.gov] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[en.wikipedia.org] […] migration Type II diabetes mellitus Progressive sensorineural hearing impairment Migraine Status epilepticus Vertigo Generalized myoclonic seizures Cerebral calcification[mendelian.co]

  • Oculo-Palato-Cerebral Syndrome

    impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset[se-atlas.de] Examinations under anesthesia showed bilateral microcornea and microphthalmos.[ojoonline.org] : Typical face (Figs. 2, 3) Short Stature (SD) Upperllower segment ratio (SD) Small Hands (SD) Small Feet (SD) Midline Cleft Palate Large pointed ears Undescended testes Microphthalmos[myslide.es]

  • Fraser Syndrome

    Treatment Otologic anomalies Detect hearing impairment, use appropriate auditory treatment as indicated by severity of loss, such as hearing aid or cochlear implant.[medicine.uiowa.edu] Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[ijponline.biomedcentral.com]

  • Disorder of Sex Development - Intellectual Disability Syndrome

    impairment 0008625 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short philtrum 0000322 Short thorax Shorter[rarediseases.info.nih.gov] :0000567 27 abnormality of the face 60 Very frequent (99-80%) 28 abnormal hair pattern 60 Very frequent (99-80%) 29 male pseudohermaphroditism 33 HP:0000037 30 bilateral microphthalmos[malacards.org] […] language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Autosomal recessive inheritance 0000007 Bilateral microphthalmos[rarediseases.info.nih.gov]

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