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98 Possible Causes for Diffuse Hypotonia, Microphthalmos, Myopia

  • Congenital Muscular Dystrophy

    Respiratory insufficiency and orthopedic complications may become severe, with diffuse joint contractures and spinal rigidity.[ncbi.nlm.nih.gov] […] 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]

  • Isolated Congenital Sclerocornea

    Histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring.[odlarmed.com] 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]

  • Congenital Cystic Eyeball

    Figure 9a Muscle-eye-brain disease and POMGnT1 mutation in a 5-month-old infant who presented with muscular hypotonia, weakness, intractable seizures, and poor visual function[pubs.rsna.org] Microphthalmos precluded accurate tonometry.[nature.com] Some anticonvulsants are associated with a number of abnormalities, including early-onset myopia and strabismus.[patient.info]

  • Spastic Ataxia with Congenital Miosis

    He had lack of psychomotor development, hypotonia, head lag, poor visual fixation, and failure to thrive.[findzebra.com] There are also optic disc coloboma, optic nerve degeneration and microphthalmos.[medical-dictionary.thefreedictionary.com] Miosis Spasticity, Childhood-Onset, With Hyperglycinemia Spinocerebellar Ataxia 42 Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenitalcataracts, And Myopia[familydiagnosis.com]

  • Bonnemann-Meinecke-Reich Syndrome

    […] degeneration Related symptoms: Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia SOURCES: OMIM ORPHANET MENDELIAN More info[mendelian.co] […] microcytic, microdeletion, microdontia, microgastria, micrognathia, micrognatia, microlissencephaly, microlithiasis, micromelic, micropenis, microphtalmos, microphthalmia, microphthalmos[rapsodyonline.eurordis.org] […] radio synostose cubital Blépharophimosis telecanthus microstomy Blépharoptosis aortic anomaly Blépharoptosis palatine slit ectrodactylism dental anomalies Blépharoptosis myopia[wikipedia.qwika.com]

  • Congenital Corneal Opacities - Cornea Guttata - Corectopia

    Histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring.[emedicine.medscape.com] This abnormality is a form of microphthalmos because it occurs after the formation of the optic vesicle and because the affected eye is usually small.[entokey.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]

  • Ring Dermoid of Cornea

    Histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring.[emedicine.medscape.com] Autosomal dominant simple microphthalmos. J Med Genet 1994;31:721–5. 5. Zvulunov A, Kachko L, Manor E, et al.[slideshare.net] It is associated with myopia, astigmatism, cataracts and, later on in life, lens dislocation and glaucoma.[patient.info]

  • Congenital Cataract

    There may be absence of the corpus callosum while diffuse cortical and subcortical atrophy, microgyria, and pachygyria may be evident on MRI imaging.[disorders.eyes.arizona.edu] […] short term of cataract surgery on microphthalmic eyes, in this prospective observational study we evaluated the long-term impact of bilateral cataract surgery on eyes with microphthalmos[clinicaltrials.gov] Unplanned IOL exchange or removal for high myopia was required in 3 primary group eyes and 1 secondary group eye.[ncbi.nlm.nih.gov]

  • Pinsky - Di George - Harley Syndrome

    He also had bilateral cryptorchidism and micropenis, mental delay, truncal hypotonia, and increased muscle tone in both legs.[rbcc.hegelab.org] TY - JOUR T1 - MICROPHTHALMOS, CORNEAL OPACITY, MENTAL RETARDATION, AND SPASTIC CEREBRAL PALSY; AN OCULOCEREBRAL SYNDROME.[wwww.unboundmedicine.com] Polychondrite Polydactyly alopecie seborrheic dermatosis Cross polydactyly Polydactyly dento vertebrale anomalies Polydactyly palatine slit labio psychomotor delay Polydactyly myopia[wikipedia.qwika.com]

  • Sclerocornea

    Histopathologic examination revealed diffuse epithelial thickening, loss of the Bowman layer, and stromal attenuation with anterior stromal scarring.[odlarmed.com] A case of bilateral sclerocornea, microphthalmos cornea plana and microcornea with extrophia vesicae.[healio.com] Apert, Ehlers-Danlos and Down syndromes • Osteogenesis imperfecta • Very rare, hereditary, bilateral • Corneal diameter 13 mm or more • Very deep anterior chamber • High myopia[edurev.in]

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