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12 Possible Causes for Audiometry Abnormal, Congenital Eye Anomaly, Prominent High Nasal Root

  • Hallermann-Streiff Syndrome

    Audiometry was performed to evaluate the degree and nature of the suspected hearing loss.[thefreelibrary.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 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

    Audiometry and CT scanning are imperative. Look for possible cerebral anomalies. Cranial nerves Abnormalities are common in patients with craniofacial microsomia.[emedicine.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] 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]

  • Klein-Waardenburg Syndrome

    In newborns and infants, WS may be detected by pigmentary abnormalities and by hearing screening.[healio.com] 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] […] 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]

  • Ectrodactyly

    Audiometry and speech therapy were advised. Examination of Genitourinary, Cardiovascular, Gastrointestinal and Respiratory system revealed no abnormalities.[jisppd.com] 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

    Audiometry and CT scanning are imperative. Look for possible cerebral anomalies. Cranial nerves Abnormalities are common in patients with craniofacial microsomia.[emedicine.medscape.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]

  • Waardenburg Syndrome Type 1

    In newborns and infants, WS may be detected by pigmentary abnormalities and by hearing screening.[healio.com] 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] […] deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. ( 2[zfin.org]

  • Ectodermal Dysplasia-Sensorineural Deafness Syndrome

    All the remaining family members had normal serum calcium concentrations and normal results of audiometry (Subjects II-1, III-1, III-4, and III-5), and there were no abnormalities[nejm.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] AEC syndrome (also known as Hay-Wells syndrome) is defined by ankyloblepharon (congenital adhesions between the eyelids) and other eye findings, skin erosions especially of[clinicaladvisor.com]

  • Ectrodactyly-Cleft Palate Syndrome

    Audiometry and speech therapy were advised. Examination of Genitourinary, Cardiovascular, Gastrointestinal and Respiratory system revealed no abnormalities.[jisppd.com] 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]

  • Ectodermal Dysplasia - Syndactyly Syndrome

    Audiometry and speech therapy were advised. Examination of Genitourinary, Cardiovascular, Gastrointestinal and Respiratory system revealed no abnormalities.[jisppd.com] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com] Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital ...[kegg.jp]

  • Bardet-Biedl Syndrome 10

    We noted that the severity of structural abnormalities correlated with the severity of renal dysfunction.[bmcmedgenet.biomedcentral.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 Short[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]