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1,577 Possible Causes for Congenital Eye Anomaly, Diffuse Muscle Wasting, Prominent High Nasal Root

  • Rigid Spine Syndrome

    […] skeletal muscle wasting Generalized muscle degeneration Muscle atrophy, generalized [ more ] 0003700 Generalized muscle weakness 0003324 High palate Elevated palate Increased[rarediseases.info.nih.gov] 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: Diffuse Muscle Wasting
  • 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: Diffuse Muscle Wasting
  • 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: Diffuse Muscle Wasting
  • Autosomal Dominant Spastic Paraplegia Type 9A

    New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

    Missing: Prominent High Nasal Root
  • Autosomal Recessive Centronuclear Myopathy

    […] myopathy Bethlem myopathy Cap myopathy Central core disease Congenital anomaly of skeletal muscle Congenital articular rigidity with myopathy Congenital disorders of eye[icdlist.com] Cong hered musc dystrphy (Approximate Flag) Synonyms Actin accumulation myopathy Autosomal dominant centronuclear myopathy Autosomal recessive centronuclear myopathy Benign congenital[icdlist.com]

    Missing: Prominent High Nasal Root
  • 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: Diffuse Muscle Wasting Prominent High Nasal Root
  • Chudley-Rozdilsky 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 Protruding[rarediseases.info.nih.gov] […] contractures Congenital craniosynostosis maternal hyperthyroiditis Congenital cystic eye Congenital cystic eye multiple ocular and intracranial anomalies Congenital cytomegalovirus[personalizedcause.com] […] multiplex congenita Congenital mumps Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular dystrophy Congenital muscular dystrophy[elbiruniblogspotcom.blogspot.com]

    Missing: Diffuse Muscle Wasting
  • Ectopia Lentis

    Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Congenital malformations of eye H00662 Ectopia lentis Human diseases in ICD-11[genome.jp] Abstract Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects.[ncbi.nlm.nih.gov] Intraocular tension was within normal limits in both eyes. General examination did not reveal any congenital anomalies of any system.[ijo.in]

    Missing: Diffuse Muscle Wasting Prominent High Nasal Root
  • Hydrophthalmos

    Megalocornea with glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital malformation of eye, unspecified Inclusion term(s): Congenital anomaly of[icd10coded.com] Axenfeld anomaly Axenfelds anomaly Axenfelds anomaly (eye condition) Bilateral congenital glaucoma Buphthalmos of left eye Buphthalmos of right eye Glaucoma of childhood[icd10data.com] Nephrotic syndrome ocular anomalies 0 *Eye Abnormalities *Nephrotic Syndrome/congenital. FACES syndrome 0 *Anorexia *Cachexia *Eye Abnormalities *Skin Diseases *Facies.[reference.md]

    Missing: Diffuse Muscle Wasting Prominent High Nasal Root