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3,970 Possible Causes for Failure to Thrive, Persistent Notochordal Canal, Small Optic Disc

  • 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] It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.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]

  • 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] Feeding difficulties were also associated with failure to thrive (Fisher’s exact test p 25 remains thus far unconfirmed.[jmg.bmj.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]

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] Poor feeding and failure to thrive may result secondary to severe cardiac anomalies and congestive cardiac failure.[symptoma.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
  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Ophthalmoscopy showed pale optic discs, hypopigmentation, and hyperpigmentation in the posterior pole (Fig 3 ) and clumped pigment in the periphery of the retina (Fig 4 ).[bjo.bmj.com] […] to thrive.[nxgenmdx.com] Eleven patients (22%) presented with chronic problems, consisting of failure to thrive, feeding difficulties, cholestatic liver disease, and/or hypotonia.[pediatrics.aappublications.org]

    Missing: Persistent Notochordal Canal
  • Alagille Syndrome

    Ophthalmic anomalies include posterior embryotoxon (75% of cases), Axenfeld anomaly (see this term), pigmentary retinopathy, papillary and optic disc anomalies.[orpha.net] Abstract A 4-year-old girl with failure to thrive and intense pruritus associated with Alagille syndrome is described.[ncbi.nlm.nih.gov] An 8-year old child with persisting jaundice, severe itching and failure to thrive.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Blue Diaper Syndrome

    Some infants may have eye abnormalities including underdevelopment (hypoplasia) of the optic disc, abnormal eye movements, and an abnormally small cornea (microcornea), the[rarediseases.org] Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems.[malacards.org] Other complications may include the following: Eye defects including underdeveloped optic discs, abnormal eye movements, and an abnormally small cornea Kidney stones due to[dovemed.com]

    Missing: Persistent Notochordal Canal
  • Septo-Optic Dysplasia

    A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three[ncbi.nlm.nih.gov] Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[ncbi.nlm.nih.gov] Ophthalmoscopic examination showed a small pale optic disc in the right eye; the optic disc of the left eye was normal.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Familial Infantile Bilateral Striatal Necrosis

    […] for gestational age Sensorimotor neuropathy Abnormal pyramidal sign Optic disc pallor Athetosis 3-Methylglutaconic aciduria Abnormality of mitochondrial metabolism Epileptic[mendelian.co] […] to thrive, myoclonus, quadriparesis, cerebellar ataxia and nystagmus.[orpha.net] The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation[genome.jp]

    Missing: Persistent Notochordal Canal
  • Isolated optic nerve hypoplasia

    An overgrowth of retinal pigment epithelium surrounding the small optic disc gives rise to the “double ring sign”.[pediatricneurologybriefs.com] Clinical presentations include hypopituitarism, the commonest being growth hormone deficiency presenting as short stature, failure to thrive, hypoglycemia, developmental delay[ijri.org] ONH is a nonprogressive congenital disc anomaly characterized by a small optic disc with a double-ring sign.[e-tjo.org]

    Missing: Persistent Notochordal Canal
  • Emanuel Syndrome

    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] The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.[checkorphan.org] Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal

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