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1,941 Possible Causes for Low Set Ears, Persistent Notochordal Canal, Small Optic Disc

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or[mayoclinic.org] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org]

    Missing: Persistent Notochordal Canal
  • Optic Atrophy-Intellectual Disability Syndrome

    disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the[nfed.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Hallermann-Streiff Syndrome

    The fundus showed poorly defined disc margins with a small optic nervehead. A yellow-gray band of subretinal pigment extended vertically through the macula.[healio.com] 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] View map Stories of Hallermann Streiff Syndrome HALLERMANN STREIFF SYNDROME STORIES VIEWS BY SURPRISE normal pregnancy. normal birth. due to low set ears and big forhead recommended[diseasemaps.org]

    Missing: Persistent Notochordal Canal
  • CHARGE Syndrome

    Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole.[ncbi.nlm.nih.gov] Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set[gosh.nhs.uk] The most common external ear anomalies include low-set ears, asymmetric ears, or small or absent ear lobes. The degree of hearing loss varies from mild to severe.[encyclopedia.com]

    Missing: Persistent Notochordal Canal
  • Rubinstein-Taybi Syndrome

    Right fundus of 37 year old female patient with Rubinstein-Taybi syndrome showing a pale and excavated optic disc and a small chorioretinal coloboma.[ncbi.nlm.nih.gov] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[medical-dictionary.thefreedictionary.com] Figure 4 Right fundus of 37 year old female patient with Rubinstein-Taybi syndrome showing a pale and excavated optic disc and a small chorioretinal coloboma.[bjo.bmj.com]

    Missing: Persistent Notochordal Canal
  • Acrorenal Mandibular Syndrome

    […] of the disc, designated optic nerve 'coloboma' or 'morning glory' anomaly.[mendelian.co] Symptoms via clinical synopsis from OMIM: 58 Head And Neck Ears: low-set ears posteriorly rotated ears Chest External Features: narrow chest Skeletal Pelvis: hip dislocation[malacards.org] Severe mandibular hypoplasia and low-set ears may be additional features.[accessanesthesiology.mhmedical.com]

    Missing: Persistent Notochordal Canal
  • Cerebellotrigeminal Dermal Dysplasia

    Unilateral Optic Nerve Aplasia Clinically a premature baby, Ophthamological evaluation revealed abnormally small Optic disc on right side.[neuroradiologycases.com] Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment[orpha.net] Diseases related with Low-set ears and Corneal opacity In the following list you will find some of the most common rare diseases related to Low-set ears and Corneal opacity[mendelian.co]

    Missing: Persistent Notochordal Canal
  • Congenital Aural Atresia

    Nerve Hypoplasia ; 12.14 Optic Pit ; 12.15 Morning Glory Disc Anomaly ; Chapter 13 External Ear ; Dorothy Katherine Grange ; Introduction ; 13.1 Absence of the External Ear[amazon.de] […] malformation Conductive hearing impairment Exostosis of the external auditory canal Low-set ears Low-set, posteriorly rotated ears Growth abnormality Short stature Neoplasm[familydiagnosis.com] Low-set ears Low-set ears HP:0000369 - 6.1.9 Posteriorly rotated ears Posteriorly rotated ears HP:0000358 - 6.1.10 Auricular pits/fistulas Preauricular sinus HP:0004467 -[compbio.charite.de]

    Missing: Persistent Notochordal Canal
  • Oculopalatoskeletal Syndrome

    optic discs, tortuous retinal vessels, posterior embryotoxon Walker-Warburg syndrome (236670) Multiple ocular findings including retinal detachment, cataracts, microphthalmia[clinicalgate.com] While the ears in the other three syndromes were large and fleshy, our proband exhibited low set ears. In addition in Mingarelli, the hearing is actually normal.[ijo.in] […] and poor vision Townes–Brocks syndrome (107480) Chorioretinal coloboma, Duane anomaly; both of these are rare Velocardiofacial syndrome (192430) Narrow palpebral fissures, small[clinicalgate.com]

    Missing: Persistent Notochordal Canal

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