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102 Possible Causes for Diffuse Hypotonia, Microphthalmos

  • 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] […] 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]

  • 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] 743.00 Clinical anophthalmos, unspecified 743.06 Cryptophthalmos 743.10 Microphthalmos, unspecified 743.11 Simple microphthalmos 743.12 Microphthalmos associated with other[healthprovidersdata.com]

  • 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] In most patients, the eye on the affected side or sides is also abnormally small (microphthalmos).[rarediseases.org]

  • 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] Secondary CCO (severe sclerocornea) with cataract, coloboma, and microphthalmos. The child was small for age, had failure to thrive with cardiac anomalies also.[topsy.one]

  • 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] All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two.[ncbi.nlm.nih.gov]

  • 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] […] complex microphthalmos), a small globe with multiple anomalies ( 20 ).[entokey.com]

  • Hypomyelinating Leukodystrophy Type 5

    Its main symptoms include severe mental retardation, dysarthria, athetoid movement, hypotonia, and spastic paraplegia; MRI reveals that myelination is delayed at infancy.[plaza.umin.ac.jp] Q10.5 Congenital stenosis and stricture of lacrimal duct Q10.6 Other congenital malformations of lacrimal apparatus Q10.7 Congenital malformation of orbit Q11 Anophthalmos, microphthalmos[icd10data.com] These are accompanied by microcornea, microphthalmos and micropupils.[ojrd.biomedcentral.com]

  • Noonan Syndrome

    hypotonia, joint laxity, and cardiac disease.[aafp.org] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] […] intellectual disability, coarse facial features, curly or sparse fine hair, soft skin with deep palmar and plantar creases, papillomata of the face and perianal region, diffuse[aafp.org]

  • Cranial Meningocele

    hypotonia, disturbances in respiratory (hyperventilation and central apnea), oculomotor apraxia, and respiratory difficulties.[sites.google.com] Research of Meningocele - Cranial has been linked to Meningocele, Congenital Cerebral Hernia, Hydrocephalus, Microphthalmos, Cleft Palate.[novusbio.com] Individuals with frontoethmoidal encephalocele sometimes have additional anomalies, including microcephaly (24%), microphthalmos (16%), and hydrocephalus (12 %).[rrnursingschool.biz]

  • Hereditary Hyperekplexia

    The patients have generalized dystonia, often associated with axial hypotonia and diffuse choreoathetoid movements.[findzebra.com] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] With aging, the axial hypotonia tends to improve, abnormal movements decrease, and the dystonia becomes more fixed.[findzebra.com]

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