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1,504 Possible Causes for Congenital Eye Anomaly, Muscle Biopsy showing Variation In Fiber Size, Prominent High Nasal Root

  • Rigid Spine Syndrome

    Muscle biopsy performed in the older brother showed increase in fibrosis, variation in fiber size, type I fibre predominance, and the presence of central and eccentric cores[cags.org.ae] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov] It has been emphasized that at autopsy of affected fetuses demonstrable muscle changes may not be observed, while brain and eye anomalies are clearly demonstrated197.[cyberleninka.org]

  • Hallermann-Streiff Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Pulmonary[rarediseases.info.nih.gov] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov] He had an unusually small body, “… a prominent nose, depressed nasal root, high-arched palate, low-set ears, and small mouth…”(Erciyes 130).[hallermann-streiff-awareness.weebly.com]

    Missing: Muscle Biopsy showing Variation In Fiber Size
  • Congenital Cataract

    We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation[ncbi.nlm.nih.gov] Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related MDDGA5 613153[ukgtn.nhs.uk] & Experimental Ophthalmology, Congenital Anomalies, Congenital Heart Disease, World journal for pediatric & congenital heart surgery[imedpub.com]

    Missing: Muscle Biopsy showing Variation In Fiber Size
  • Schwartz-Jampel Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent[rarediseases.info.nih.gov]

    Missing: Muscle Biopsy showing Variation In Fiber Size
  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.edu] […] synthase domain containing occasional Early / Late Rapid/ Moderate Possible 6-50X Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A,[ncbi.nlm.nih.gov] Muscle biopsy shows evidence of a dystrophy with random variation in fiber size and evidence of degeneration and regeneration. Type one fibers may predominate.[ncbi.nlm.nih.gov]

    Missing: Prominent High Nasal Root
  • Limb-Girdle Muscular Dystrophy Type 2G

    (congenital with brain and eye anomalies, - MDDGA8 * Walker-Warburg syndrome - WWS Walker-Warburg syndrome (WWS) - (AR) 2.26 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase[195.83.227.65] […] with brain and eye anomalies), - MDDGA7 Walker-Warburg syndrome - (AR) 2.25 protein O-linked mannose N-acetylglucosaminyltransferase 2 * Muscular dystrophy-dystroglycanopathy[195.83.227.65] N-acetylglucosaminyltransferase Walker-Warburg syndrome - (AR) 2.24 Isoprenoid synthase domain containing * Walker-Warburg syndrome - WWS * Muscular dystrophy-dystroglycanopathy (congenital[195.83.227.65]

    Missing: Prominent High Nasal Root
  • Congenital Merosin-Positive Muscular Dystrophy

    (Top) Muscle biopsy showing variation in muscle fiber size with atrophic and hypertrophic fibers.[myslide.es] […] with brain and eye anomalies), type A, 8 AR 6 9 POMT1 Muscular dystrophy-dystroglycanopathy AR 47 96 SELENON Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber[blueprintgenetics.com] In some individuals with CMD, muscle biopsy may only show fiber size variation with absence of or only mild manifestations of fibrosis, necrosis, or regeneration [ Wang et[ncbi.nlm.nih.gov]

    Missing: Prominent High Nasal Root
  • Nemaline Myopathy Type 4

    A muscle biopsy specimen (only paraffin sections) indicated a primary myopathy with fiber size variation.[jamanetwork.com] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk] (congenital with brain and eye anomalies), type A, 5, 613153 LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 ISPD[gsdseq.ir]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    Muscle biopsies in all four patients showed similar changes.[bioline.org.br] Other features included dolichocephaly, prominent nasal root, oblique palpebral fissures, high-arched palate, low-set ears, and short neck with mild pterygium colli.[bio2rdf.org] […] with brain and eye anomalies) ISPD Muscular dystrophy-dystroglycanopathy KBTBD13 Nemaline myopathy KLHL40 Nemaline myopathy LAMA2 Muscular dystrophy, congenital merosin-deficient[genda.com.ar]

  • Choroid Hemangioma

    anomaly whereby the eye is shorter than normal, develops a cataract, and may present with whitening of the pupil.[murraymd.com] Parents can observe the red reflex can be seen by dimming the room lights and using a flashlight to shine light directly into the child's eyes.[murraymd.com] […] a rare cancer, some pediatricians may fail to detect it early enough or sometimes mistakenly diagnose it as: Persistent hyperplastic primary vitreous (PHPV): an unusual congenital[murraymd.com]

    Missing: Muscle Biopsy showing Variation In Fiber Size Prominent High Nasal Root

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