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35 Possible Causes for Congenital Eye Anomaly, Ear Deformity, Prominent High Nasal Root

  • Mandibulofacial Dysostosis

    These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis.[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]

  • Hallermann-Streiff Syndrome

    Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental Dysplasia Trichodentoosseous Syndrome Trichoodontoonychial Dysplasia with Bone Deficiency Trichorhinophalangeal[nfed.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 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

    Note the bowing of the tibiae, valgus deformities of the ankles, and pes planus. Also note the muscle hypertrophy and mild chest deformity.[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] , and skeletal deformities.[advbiores.net]

  • Congenital Cataract

    ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[icd10data.com] 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]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    deformity) and variable developmental delay.[malacards.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]

  • Chudley-Rozdilsky Syndrome

    deformity, cleft palate, scoliosis, and other features - See Iida Kannari syndrome Craniosynostosis with radial defects - See Baller-Gerold syndrome Craniosynostosis, anal[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]

  • Nager Syndrome

    Their distinction lies in the fact that they have more severe ear deformities than patients with Treacher Collins.[cranioutah.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]

  • Baller-Gerold Syndrome

    Skeletal dysplasia is a feature and often leads to vertebral deformities and scoliosis.[disorders.eyes.arizona.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 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]

  • Nemaline Myopathy Type 4

    The outcome of NOMID used to be such that many patients developed severe joint deformities and neurologic damage, mainly to the ears and eyes.[rheumatology.org] 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]

  • Ectrodactyly

    , and cup-shaped ears.[orpha.net] 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]

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