Create issue ticket

25 Possible Causes for Congenital Eye Anomaly, Prominent High Nasal Root, X-Ray Abnormal

  • Hallermann-Streiff Syndrome

    X-ray study is recommended as an inexpensive and readily available but informative tool.[ncbi.nlm.nih.gov] 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]

  • Schwartz-Jampel Syndrome

    The most common X-ray abnormality observed in patients with Schwartz-Jampel syndrome is prominent sternum and hip dysplasia.[cags.org.ae] 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] The following are some abnormalities of the bones that are frequently noticed on x rays: * flat and irregularly formed vertebrae * deformity of the upper part of the thigh[checkorphan.org]

  • Mandibulofacial Dysostosis

    X-rays may be needed to determine the extent of facial bone abnormality.[contact.org.uk] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov] Anterior Chamber Brain Choroid Congenital Syndromes Albinism (see under Iris) Anomalies of Eye Size Chromosomal Anomalies Malformation of the Optic Cup Marcus Gunn Jaw-Winking[atlasophthalmology.net]

  • Chudley-Rozdilsky Syndrome

    Sinus Abnormal bone Abnormal teeth Normal bone scan & pain continuousor joint for over one monthDo further Get an ENT Get dentalGU workup workup usually Get an X-ray evaluation[lumiererestaurant.com] 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]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    X-rays of the skull : Anteroposterior , lateral, and special views may be done for craniosynostosis assessment.[lecturio.com] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co] WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Congenital[mendelian.co]

  • Baller-Gerold Syndrome

    […] on x-rays.[rarediseases.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Scoliosis[rarediseases.info.nih.gov] 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]

  • Malpuech Syndrome

    Some professionals believe that hormonal abnormalities, X-rays, viral infections, immunologic problems, or genetic predisposition may be the cause of the improper cell division[123helpme.com] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov] […] with brain and eye anomalies), type A , see Walker-Warburg syndrome muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A , see Walker-Warburg syndrome[herenciageneticayenfermedad.blogspot.com]

  • Nager Syndrome

    […] mutation in the RECQL4 Cornelia de Lange syndrome (OMIM# 122470) Facial defects, growth restriction and mental retardation, upper limb anomalies Defects in chromosome 5,10,X[gynecology-obstetrics.imedpub.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Radial[rarediseases.info.nih.gov] Nager acrofacial dysostosis is a genetic congenital anomaly syndrome.[en.wikipedia.org]

  • Noonan Syndrome

    In many individuals with NSML, X-ray studies may also be used to confirm the presence of certain skeletal abnormalities suspected during clinical observation.[rarediseases.org] The triangular facial features become even sharper in teenagers and young adults, with a pinched root and a thin, high bridge on the nose.[touchendocrinology.com] […] examination in infancy and/or at diagnosis — Eye reevaluation as indicated if abnormal or every two years thereafter Pregnancy Congenital heart defects, effusion, hydrops[aafp.org]

  • Raine Syndrome

    […] of extremities of the proband (Left): the arrow indicates small sclerotic areas observed in lower part of the right femur; X-ray of the skull (Right): abnormal skull shape[bmcmedgenet.biomedcentral.com] (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy[institutobernabeu.com] eye proptosis.[en.wikipedia.org]

Similar symptoms