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561 Possible Causes for Microphthalmos, Muscular Atrophy, Myopia

  • Congenital Muscular Dystrophy

    The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy[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]

  • Melhem-Fahl Syndrome

    atrophy ataxia retinitis pigmentosa diabetes mellitus Muscular dystrophy Hutterite type Muscular dystrophy congenital infantile cataract hypogonadism Muscular dystrophy congenital[mindmappedia.com] Myopia, infantile severe Myopia, severe Myotubular myopathy Myos-Myot Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis, inclusion[bionity.com] Myopia, infantile severe Myopia, severe Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis, inclusion body Myositis Myotonia[bioreference.net]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.[arthritisresearch.us] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[en.wikipedia.org] Microcephaly microphthalmos blindness[?] Microcephaly nonsyndromal[?] Microcephaly pontocerebellar hypoplasia dyskinesia[?][encyclopedia.kids.net.au]

  • Mononen-Karnes-Senac Syndrome

    atrophy ataxia retinitis pigmentosa and diabetes mellitus Muscular atrophy, infantile - See Spinal muscular atrophy 1 Muscular atrophy, juvenile - See Spinal muscular atrophy[herenciageneticayenfermedad.blogspot.com] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[mindmappedia.com] Myopia, infantile severe Myopia, severe Myotubular myopathy Myos–Myot [ edit ] Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis[en.wikipedia.org]

  • Myelocerebellar Disorder

    atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Pseudoprogeria[se-atlas.de] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[academickids.com] * Microphthalmia diaphragmatic hernia Fallot * Microphthalmia mental deficiency * Microphthalmia microtia fetal akinesia * Microphthalmia, Lentz type * Microphthalmia * Microphthalmos[en.academic.ru]

  • Pfeiffer-Palm-Teller Syndrome

    Spinal muscular atrophy with congenital bone fractures Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance[sosu.us] Aughton syndrome 0 *Abnormalities, Multiple *Cleft Palate *Dextrocardia *Intellectual Disability *Microphthalmos.[reference.md] […] interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Retrognathia, related diseases and genetic alterations Myopia[mendelian.co]

  • Syndromic Microphthalmia Type 10

    , spinal muscular atrophy, congenital benign, with contractures;autosomal dominant benign distal spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures[mendelian.co] 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]

  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    atrophy 31 Cases 3134 SCARF syndrome 2 Cases 90080 Scarring in glaucoma filtration surgical procedures 22.0 P * 2353 Schilbach-Rott syndrome 18 Cases 1830 Schimke immuno-osseous[azkurs.org] 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]

  • Microcornea

    , with Tapetal-like Sheen Congenital Adrenal Hypoplasia with Precocious Puberty Congenital Alopecia X-Linked Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy[rgd.mcw.edu] PURPOSE: To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos.[ncbi.nlm.nih.gov] This disorder associated with axial myopia is an extremely rare ophthalmologic condition.[ncbi.nlm.nih.gov]

  • Prata-Libéral-Gonçalves Syndrome

    […] shape and short stature 245 dysplasia short stature and developmental delay to 5-alpha-reductase deficiency mental retardation syndrome Familial incomplete male Coloboma-microphthalmos[yumpu.com] Spinal muscular atrophy with congenital bone fractures Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance[sosu.us] […] kyphosis Irregular acetabular roof Spondyloepimetaphyseal dysplasia Hyperlordosis Bowing of the legs Limited elbow extension Abnormality of the skeletal system Arthritis Myopia[mendelian.co]

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