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26 Possible Causes for Abnormal Dentition, Congenital Eye Anomaly, Prominent High Nasal Root

  • Hallermann-Streiff Syndrome

    The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[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]

  • Congenital Cataract

    Delayed dentition, enamel dysplasia, and abnormal cusp morphology are often present. Cardiac septal defects may be seen.[disorders.eyes.arizona.edu] 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

    dentition, choanal atresia and mandibular retrusion, external ear malformations and conductive hearing loss. [2] [3] Ocular findings in Treacher Collins syndrome include:[eyewiki.aao.org] 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]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    The principal features are craniosynostosis , multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition.[ihop-net.org] […] 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]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] of the dentition Blindness Tremor Optic atrophy Dysarthria Glomerulopathy Sensorineural hearing impairment Anterior bowing of long bones Encephalopathy Long eyelashes in[mendelian.co] […] 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] Multiple vertebral anomalies unusual facies[?] Mumps Munchausen by proxy syndrome[?] Muscle-eye-brain syndrome[?][encyclopedia.kids.net.au]

  • Ectrodactyly

    Patients with this syndrome have abnormal facial features--namely, clefts of the lip and palate--and abnormal dentition, which could affect the growth of their midface region[ncbi.nlm.nih.gov] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com] Other symptoms include anomalies of eyes and urinary tract.[genome.jp]

  • Nager Syndrome

    dentition, choanal atresia and mandibular retrusion, external ear malformations and conductive hearing loss. [2] [3] Ocular findings in Treacher Collins syndrome include:[eyewiki.aao.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 Radial[rarediseases.info.nih.gov] Nager acrofacial dysostosis is a genetic congenital anomaly syndrome.[en.wikipedia.org]

  • Renpenning Syndrome 1

    […] iris morphology Delayed skeletal maturation Abnormality of the dentition Short nose Splenomegaly Anteverted nares Stiff skin Inability to walk Large iliac wings Abnormality[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]

  • Wolf Hirschhorn Syndrome

    : deletion Critical Region: 17p11.2 Mental retardation Brachycephaly Low-set, malformed ears Broad nasal bridge Prognathism Cleft lip and/or palate Short fingers Delayed dentition[alpfmedical.info] 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]

  • Pancreatic Insufficiency - Anemia - Hyperostosis Syndrome

    Diseases related with Hepatomegaly and Abnormality of the dentition In the following list you will find some of the most common rare diseases related to Hepatomegaly and Abnormality[mendelian.co] Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences[ncbi.nlm.nih.gov] […] vascular anomaly of eye 2819007 Magnesium sulfate poisoning 2825006 Abrasion and/or friction burn of gum without infection 2828008 Congenital stenosis of nares 2829000 Uhl[build.fhir.org]