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3,911 Possible Causes for Persistent Notochordal Canal, Scoliosis, Small Optic Disc

  • Velocardiofacial Syndrome

    Scoliosis has been mentioned but not emphasized as a common feature.[journals.lww.com] optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] […] 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

    Musculoskeletal At risk for hypotonia with decreased muscle, scoliosis, pes planus, joint contractures, hip dysplasia, and pectus deformities.[pediatrics.aappublications.org] 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] 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

    […] see otulipenia AIRE deficiency, see autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy AIS, see androgen insensitivity syndrome AIS, see adolescent idiopathic scoliosis[mygenomics.com] 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] 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]

  • Alpha-B Crystallinopathy

    Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis).[ncbi.nlm.nih.gov] […] round white spots in the posterior pole of the eye, including the areas of the macula and optic disc, appearing in early adult life 4 Fleck retina of Kandori, caused by mutations[centogene.com] 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]

  • Meningomyelocele

    A young boy presented with a cystic swelling over left gluteal region with lumbosacral scoliosis.[ncbi.nlm.nih.gov] […] splits around that adhesion or persistence of the neurenteric canal, which would leave a connection of pluripotent cells between the ectoderm and the endoderm. [8] The role[asianjns.org] […] large meningomyelocele defects in an easily reproducible operation preserving local soft tissue (muscle, fascia) for potential salvage operations or revisions (such as for scoliosis[ncbi.nlm.nih.gov]

    Missing: Small Optic Disc
  • Scheuermann's Disease

    Abstract The problems of scoliosis screening in the Federal Republic of Germany are outlined.[ncbi.nlm.nih.gov] .: Persistance of the notochordal canal in the vertebrae. J. Anat. 111 , 211 (1972) Google Scholar 53.[link.springer.com] We call this kyphoscoliosis, or scoliosis with a kyphosis.[clear-institute.org]

    Missing: Small Optic Disc
  • Scapuloperoneal Spinal Muscular Atrophy

    Additional features, such as vocal cord paralysis, scoliosis and/or arthrogryposis, are likely to occur.[ncbi.nlm.nih.gov] notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures.[athenadiagnostics.com]

    Missing: Small Optic Disc
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    He also developed bulbar involvement and severe scoliosis during childhood.[ncbi.nlm.nih.gov] 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] Symptoms of these disorders vary and may include numbness and tingling in the feet and hands, muscle weakness (especially in the distal muscles), scoliosis, thin lower legs[goldbamboo.com]

    Missing: Small Optic Disc
  • Congenital Malformation of the Spine

    […] fused vertebrae without scoliosis E: Trapezoidal shaped vertebrae with scoliosis (Courtesy John T.[srs.org] Around the third week of gestation, when the cells from Hensen’s node are proliferating and migrating, there may be a focal splitting of the notochord secondary to a persistent[radiologykey.com] Congenital scoliosis detected at an early age is one of the most challenging types of scoliosis to treat.[orthoinfo.aaos.org]

    Missing: Small Optic Disc
  • Optic Disc Drusen

    […] included congenital heart disease (2 patients), malignant melanoma of the skin (1), acute lymphoblastic leukemia (1), essential hypertension (1), cleft lip and palate (1), scoliosis[healio.com] Optic disc drusen were significantly associated with small optic discs (p 0.001).[ncbi.nlm.nih.gov] In addition, she had NVD in both eyes with a small optic disc haemorrhage in the left eye. The retinas appeared normal in both eyes.[nature.com]

    Missing: Persistent Notochordal Canal

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