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583 Possible Causes for Hearing Impairment, Microphthalmos, Myopia

  • 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] Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases.[ncbi.nlm.nih.gov] […] 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]

  • 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]

  • Syndromic Microphthalmia Type 10

    impairment Deafness Hearing defect [ more ] 0000365 Visual loss Loss of vision Vision loss [ more ] 0000572 5%-29% of people have these symptoms 11 pairs of ribs 0000878[rarediseases.info.nih.gov] Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[icdlist.com] AD - 154600 MARFAN SYNDROME Ectopia lentis, myopia AD FBN1 #154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE) Myopia - FBN1 #604308 MECKEL SYNDROME Iris colobma, hypertelorism[eyewiki.aao.org]

  • 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] […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com] AD/-/154600 MARFAN SYNDROME/Ectopia lentis, myopia /AD/FBN1/#154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE)/Myopia/-/FBN1/#604308 MECKEL SYNDROME/Iris colobma, hypertelorism[eyewiki.org]

  • Stickler Syndrome

    CONCLUSIONS: Hearing impairment in patients with Stickler syndrome is common.[ncbi.nlm.nih.gov] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] In the third family, all patients had a marfanoid habitus, high myopia, and mental retardation.[ncbi.nlm.nih.gov]

  • 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] Surprisingly, the patient had a normal axial length and moderate myopia on both eyes.[ncbi.nlm.nih.gov]

  • 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] JME, 7/71 MASS phenotype anomalies of hands and feet Juvenile sulfatidosis and ectopia lentis Blepharoptosis myopia ectopia Petit mal impulsive Overlap connective tissue[yumpu.com]

  • 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] Ophthalmology assessment detected retinal folds and myopia (0.56 on the LogMAR scale).[bone-abstracts.org]

  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    Intellectual disability Pica Hearing impairment Nystagmus SOURCES: OMIM UMLS MONDO ORPHANET GARD More info about COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT[mendelian.co] microphthalmos) or posterior segment (posterior microphthalmos; (PM) of eyeball.[nature.com] […] clinical features of the condition may include: 1 Clinical Features of Retinal degeneration-nanophthalmos-glaucoma syndrome : Visual impairment Abnormal electroretinogram Myopia[familydiagnosis.com]

  • Isolated Congenital Sclerocornea

    impairment Scoliosis Sensorineural hearing impairment SOURCES: SCTID ORPHANET MONDO OMIM More info about BRITTLE CORNEA SYNDROME 1; BCS1 Too many results?[mendelian.co] The condition is often associated with other local and systemic anomalies like microphthalmos, anomalies a t the angle of the anterior chamber (Franceschetti, 1946; Goldstein[documents.tips] AD/-/154600 MARFAN SYNDROME/Ectopia lentis, myopia /AD/FBN1/#154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE)/Myopia/-/FBN1/#604308 MECKEL SYNDROME/Iris colobma, hypertelorism[eyewiki.org]

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