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1,173 Possible Causes for Persistent Notochordal Canal, Short Philtrum, 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] […] 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
  • 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: Short Philtrum
  • 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: Short Philtrum
  • Acrocallosal Syndrome

    […] describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short[ncbi.nlm.nih.gov] In addition to the classic facial deformities aforementioned, the other most commonly reported oral findings are: short philtrum/upper lip (30%); high-arched palate (30%);[ncbi.nlm.nih.gov] Additional malformations have been described occasionally: short philtrum/upper lip, high-arched palate, cleft lip/palate, heart defects, hypospadias and inguinal and umbilical[orpha.net]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Char Syndrome

    The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth.[ncbi.nlm.nih.gov] In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set[ncbi.nlm.nih.gov] Char initially described affected neonates to have low-set ears, bilateral ptosis, a short philtrum and duckbill lips.[symptoma.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Progeroid Facial Appearance with Hand Anomalies

    short nose, prominent, long OTHERS inheritance inheritance, autosomal dominant supergroups arthro-facio-neuro-oculo--oto-skeletal disorders arthro-neuro-oculo-oto-skeleal[studyres.com] optic discs, tortuous retinal vessels, posterior embryotoxon Walker-Warburg syndrome (236670) Multiple ocular findings including retinal detachment, cataracts, microphthalmia[clinicalgate.com] The characteristic facies of Lujan syndrome is long and thin with a tall forehead, short philtrum and sometimes micrognathia.[nature.com]

    Missing: Persistent Notochordal Canal
  • Chromosome 19q13.11 Deletion Syndrome

    […] nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short philtrum 0000322 Short stature Decreased[rarediseases.info.nih.gov] […] 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] philtrum, thin lips, hypodontia with coarse and rudimental shaped teeth ( d ), small mandible, and large ear lobules ( e ).[nature.com]

    Missing: Persistent Notochordal Canal
  • Microdeletion 3q29 Syndrome

    The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly[orpha.net] philtrum and large ears.[ncbi.nlm.nih.gov] philtrum, and high nasal bridge.[research.manchester.ac.uk]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Pitt-Hopkins Syndrome

    As the child grows, they may develop deep-set eyes, a high nasal root with prominent nasal bridge, wide nostrils and down-turned nasal tip; a short philtrum, and a wide mouth[ncbi.nlm.nih.gov] Note prominent nose with depressed tip, short philtrum, full lips, wide mouth with downturned corners, and well-developed chin.[ncbi.nlm.nih.gov] Note wide nasal ridge and alae, short philtrum, and full lips, with everted lower lip. Figure 4. Girl age ten years with Pitt-Hopkins syndrome.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Goldberg-Shprintzen Syndrome

    At 2 years, she manifested the described dysmorphism, progressive microcephaly, mildly downward slanting palpebral fissures, a flat occiput, short philtrum, and large ears[jmg.bmj.com] The nasal tip lengthens and becomes more depressed, the columella is more prominent, leading to the appearance of a short philtrum, the nasal profile becomes convex, the face[ojrd.biomedcentral.com]

    Missing: Persistent Notochordal Canal Small Optic Disc

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