Create issue ticket

2,016 Possible Causes for Delayed Milestone, 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] Many infants present with generalized hypotonia and delayed milestones. There are psychological consequences with the reduction of full-scale intelligence quotient.[clinicaladvisor.com] Delays in reaching infant milestones like sitting up or rolling over Speech or motor development delays.[syndromepictures.com]

    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] Motor milestones are always severely delayed.[rarediseases.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] In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years.[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]

  • CHARGE Syndrome

    Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole.[ncbi.nlm.nih.gov] Developmental delayDelayed motor milestones, language delay, mental retardation Educational, behavioural, social adjustment issues; Autistic-like problems; Obsessive compulsive[doi.org] The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure[ncbi.nlm.nih.gov]

    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] Some children with LCHAD have developmental delays.[babysfirsttest.org] Symptoms are progressive spastic paraplegia, failure to thrive, delayed milestones, hyperactivity and irritability, with episodic vomiting, hyperammonemia and seizures.[genico.ch]

    Missing: Persistent Notochordal Canal
  • Alpha-B Crystallinopathy

    […] 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] Some delay in motor milestones is not uncommon. Weakness affects the hip and abdominal and shoulder musculature.[emedicine.medscape.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]

  • Duchenne Muscular Dystrophy

    All patients have symptoms by age 3 years but diagnosis is often delayed. Presenting features are: Motor milestones delayed.[patient.info] Clinical description Onset occurs in early childhood, and affected boys may show a delay in motor milestones or global developmental delay.[orpha.net] delay.[patient.info]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Mental Retardation

    In mental retardation, the child tends to have delayed milestones and will be slow in talking and walking.[differencebetween.net] milestones, especially language development Behavioral phenotype may also aid diagnosis as course evolves Cytogenetic studies; brain imaging; metabolic studies Will vary[aafp.org] Unknown cause of MR 30 to 50% of all cases of MR Variable; diagnosis may evolve over time, so repeated evaluations may be helpful Nonspecific cluster of minor malformations; delayed[aafp.org]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Oculopalatoskeletal Syndrome

    optic discs, tortuous retinal vessels, posterior embryotoxon Walker-Warburg syndrome (236670) Multiple ocular findings including retinal detachment, cataracts, microphthalmia[clinicalgate.com] She had delayed developmental milestones evidenced by the inability to walk.[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
  • Congenital Optic Disc Coloboma

    […] dysplasia • Tilted optic discOptic disc drusen • Optic disc pit • Myelinated nerve fibres Tilted disc • Common, bilateral • Frequent myopia and astigmatism • V A - normal[edurev.in] DEVELOPMENTAL EFFECTS OF VISION LOSS (also see Development sections ) Infants with decreased vision will have delayed motor milestones.[chargesyndrome.org] She had a history of childhood febrile convulsions and delayed developmental milestones.[njcponline.com]

    Missing: Persistent Notochordal Canal

Similar symptoms