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586 Possible Causes for Persistent Notochordal Canal, Small Optic Disc, Umbilical Plaque

  • Velocardiofacial Syndrome

    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] Other findings included posterior embryotoxon (69%), isolated corneal nerves (3%), sclerocornea (3%), deep iris crypts (10%), tortuous retinal vessels (58%), small optic nerves[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Adenocarcinoma of the Colon

    Their fusion leaves only a small gap called the optic disc, through which the hyaloid artery enters the eye.[news-medical.net] The optic fissure then closes as the two lips grow towards each other.[news-medical.net] This then invaginates, or curves inwards, to form two parts: the optic fissure in front and the optic cup towards the back.[news-medical.net]

    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] 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] The optic discs are pale and may be small with excavation. Strabismus and latent nystagmus are often present.[disorders.eyes.arizona.edu]

    Missing: Umbilical Plaque
  • Simpson Dysmorphia Syndrome

    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] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Small Optic Disc
  • Chromosome 19q13.11 Deletion Syndrome

    […] 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] […] of the brain • Hearing loss • Eye abnormalities such as clouding of the lens of the eye or its surrounding membrane obstructing the passage of light (cataract), abnormal smallness[rarediseases.org]

    Missing: Persistent Notochordal Canal
  • Umbilical Hernia

    Evisceration of umbilical hernias is an uncommon occurrence whereby the hernial contents break through the skin overlying the sac and skin. Irrespective of cause, sudden evisceration of an umbilical hernia is associated with deterioration and a poor outcome. Our first case was a 42-year-old woman who presented[…][ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • 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] 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] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Umbilical Plaque
  • Endometriosis

    Surgery is currently the only way to confirm a diagnosis of endometriosis. The most common surgery is called laparoscopy (pronounced lap-uh-ROS-kuh-pee ). In this procedure: The surgeon uses an instrument to inflate the abdomen slightly with a harmless gas. After making a small cut in the abdomen, the surgeon[…][nichd.nih.gov]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Umbilical Sepsis

    Umbilical Sepsis Umbilical sepsis is common name for Omphalitis of newborn. Usually after birth, the umbilical cord is cut except for a small part which is called as stump. Generally the stump dries and falls off from the skin within 3-45 days from birth. But sometimes due to unhygienic conditions or some other reasons[…][prernanayak.blogspot.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Lymph Node Metastasis

    AIM: To explore the features and prognostic value of lymph node metastasis in patients with T1-stage colorectal cancer (CRC). METHODS: In all, 321 cases of T1-stage CRC were selected from 10132 patients with CRC who received surgical therapy in six large-scale hospitals in China and were retrospectively analyzed.[…][ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal Small Optic Disc

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