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36 Possible Causes for Congenital Eye Anomaly, Dysphagia, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    , Batten, Spielmeyer-Vogt, Kufs Opitz G/BBB Syndrom ( 1 Files ) Erkrankung : Opitz G/BBB Syndrom ICD 10: Q87.8 Synonyme : Hypertelorism-hypospadias syndrome, hypospadias-dysphagia[orphananesthesia.eu] 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]

  • 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] They all showed small body mass, due possibly to poor nutrition from dysphagia.[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]

  • Hallermann-Streiff Syndrome

    Rutherfurd Syndrome oculodentodigital dysplasia Oculomaxillofacial Dysostosis Oculootoradial Syndrome Oculopalatocerebral Syndrome Oculorenocerebellar Syndrome Odontoma Dysphagia[rgd.mcw.edu] 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]

  • Mandibulofacial Dysostosis

    Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar[ncbi.nlm.nih.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]

  • Chudley-Rozdilsky Syndrome

    […] atorlip delivery Epidermolytic palmoplantar keratoderma Vorner type Ter Haar syndrome Malignant hyperthermia susceptibility type 2 Neuroectodermal tumors primitive Infantile dysphagia[misclasesencasa.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]

  • Nemaline Myopathy Type 4

    AIM: To review the studies conducted to date on the communication difficulties and dysphagia of children with nemaline myopathy and their possible management based on speech[ncbi.nlm.nih.gov] 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]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] […] potential to repetitive nerve stimulation Cyanosis Paralysis Tapered finger Autoimmunity Respiratory tract infection Congenital onset Heterogeneous Respiratory distress Dysphagia[mendelian.co] Multiple vertebral anomalies unusual facies[?] Mumps Munchausen by proxy syndrome[?] Muscle-eye-brain syndrome[?][encyclopedia.kids.net.au]

  • Rigid Spine Syndrome

    Respiratory failure, facial weakness, facial dysmorphism, dysphagia, contractures, and diffuse weakness occur in more than 90%.[emedicine.medscape.com] 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]

  • Renpenning Syndrome 1

    Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.[mendelian.co] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] (congenital with brain and eye anomalies), type A, 2 POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 FKRP Myotonia congenita[ceifer.com]

  • Klein-Waardenburg Syndrome

    nasal root, prominent columella Hypoplastic alae nasi Premature gray hair (before age 30 years) W index: The measurements necessary to calculate the W index (in mm) are as[en.wikibooks.org] , Batten, Spielmeyer-Vogt, Kufs Opitz G/BBB Syndrom ( 1 Files ) Erkrankung : Opitz G/BBB Syndrom ICD 10: Q87.8 Synonyme : Hypertelorism-hypospadias syndrome, hypospadias-dysphagia[orphananesthesia.eu] […] by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has material basis in heterozygous or homozygous[malacards.org]

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