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43 Possible Causes for Congenital Eye Anomaly, Low Set Ears, Prominent High Nasal Root

  • Hallermann-Streiff Syndrome

    We describe a 20-year-old female patient whose clinical findings mostly fall into this syndrome, except for the presence of slightly low-set ears.[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

    English Add a one-line explanation of what this file represents Description The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set[commons.wikimedia.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 Ptosis[rarediseases.info.nih.gov] The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low[ncbi.nlm.nih.gov]

  • Congenital Cataract

    In Gardner-Silengo-Wachtel syndrome (Micrognathia, low set ears, double outlet right ventricle with VSD and 46 XY Gonadal dysgenesis). No polydactyly.[omicsonline.org] 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]

  • Mandibulofacial Dysostosis

    An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal[medlineplus.gov] 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]

  • Noonan Syndrome

    . - It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels[medicowesome.com] 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

    Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.[doi.org] Case 2: brachycephaly, bilateral epicanthal folds, midface and nasal root hypoplasia with absence of nasal crest and micrognathia.[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]

  • Wolf Hirschhorn Syndrome

    ears.[ncbi.nlm.nih.gov] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com] The most commonly recognised include: cleft lip and/or palate , congenital heart disease, (see entry Heart Defects ), kidney problems (see entry Kidney disease ), eye anomalies[contact.org.uk]

  • Chudley-Rozdilsky Syndrome

    - See Conductive deafness with malformed external ear Conductive deafness with malformed external ear Conductive hearing loss and malformed low-set ears - See Conductive[elbiruniblogspotcom.blogspot.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]

  • Malpuech Syndrome

    Patient at 2 years 10months of age: eyelid triadwith telecanthus,right ptosis, low-set ears, and micrognathia.Fig. 4.[documents.tips] 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]

  • Baller-Gerold Syndrome

    Affected infants may also have a prominent forehead; downslanting eyelid folds (palpebral fissures); small, malformed (dysplastic), low-set ears; and/or other craniofacial[hekim.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]

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