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3,493 Possible Causes for Microcephaly, Persistent Notochordal Canal, Small Optic Disc

  • Optic Atrophy-Intellectual Disability Syndrome

    In most infants, there is a small head, (microcephaly) without evidence of other congenital anomalies.[rarediseases.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]

  • Velocardiofacial Syndrome

    Learning disabilities occur often; short stature, slender hyperextensible hands and digits, scoliosis, mental retardation, inguinal hernia, auricular abnormalities, and microcephaly[medical-dictionary.thefreedictionary.com] optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] Less frequent features include short stature, small-than-normal head ( microcephaly ), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia[medicinenet.com]

    Missing: Persistent Notochordal Canal
  • Congenital Non-Progressive Ataxia

    […] syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-cerebellar[se-atlas.de] 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] Amish microcephaly, see Amish lethal microcephaly AML M3, see acute promyelocytic leukemia AMP deaminase deficiency, see adenosine monophosphate deaminase deficiency AMRF[mygenomics.com]

  • Oculopalatoskeletal Syndrome

    , growth retardation, and joint contractures (606240) Ptosis; single case report of two sisters Microcephaly, hiatus hernia, and nephrotic syndrome (251300) Absent cleavage[clinicalgate.com] […] of connective tissue Omphalocele Abnormality of head or neck Blepharophimosis Cleft palate Cleft upper lip Conjunctival telangiectasia Highly arched eyebrow Hypertelorism Microcephaly[familydiagnosis.com] Osteocraniostenosis Osteodysplasia familial Anderson type Osteodysplastic dwarfism Corsello type Osteoectasia familial Osteogenesis Imperfecta Osteogenesis imperfecta congenita microcephaly[wikidoc.org]

    Missing: Persistent Notochordal Canal
  • Alpha-B Crystallinopathy

    […] syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-cerebellar[se-atlas.de] […] 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] Mental retardation and microcephaly may be present. LGMD2N: This may preset with global delay.[emedicine.medscape.com]

  • CHARGE Syndrome

    […] syndrome 759.89 Cerebrohepatorenal syndrome 759.89 CGF (congenital generalized fibromatosis) 759.89 CHARGE association (syndrome) 759.89 Cockayne's disease or syndrome (microcephaly[icd9data.com] Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole.[ncbi.nlm.nih.gov] Seizures, small head size, weak upper body strength, cleft lip and/or palate, balance problems, and a poor immune system may also be present with this condition.[brandonuteachertools.net]

    Missing: Persistent Notochordal Canal
  • Myelocerebellar Disorder

    Mild microcephaly was documented in all the affected children. One child had?minor dysmorphic features, as well as the paternalfather and four? children strabismus had.[hiv-proteases.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] Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Pancytopenia Low blood[rarediseases.info.nih.gov]

    Missing: Small Optic Disc
  • Occipital Encephalocele

    Cerebral tissue in the sac and associated microcephaly are bad prognostic features.[ncbi.nlm.nih.gov] Nystagmus, strabismus, small optic discs, glaucoma, and cataracts have been reported. Poor vision and progressive loss of acuity are common.[disorders.eyes.arizona.edu] Prenatal sonograms revealed polyhydramnios, subgaleal edema, microcephaly, a narrow thorax, pericardial effusion, and a severe short-limbed dwarfism with unossified tubular[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    […] hypotonia Abnormal pyramidal sign Impaired vibratory sensation Cerebellar atrophy Hyporeflexia Areflexia Intellectual disability, moderate Neonatal hypotonia Paraparesis Microcephaly[mendelian.co] Fundal examination revealed chorioretinal folds with an unusual appearance at the macula with optic disc crowding (Figs 1, 2, 3, 4, 5 ).[bjo.bmj.com] notochordal canal syndrome 4 Cases 794 Saethre-Chotzen syndrome 3.0 BP * 300493 Sagliker syndrome 60 Cases 140969 Saldino-Mainzer syndrome 10 Cases 370938 Salt-and-pepper[azkurs.org]

  • Microcornea

    OLS Orphanet Rare Disease Ontolog ORDO Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia[ebi.ac.uk] No No NA 22 22 No No No 71438 9.5 Opacity, OD Full iris, abnormal structure Normal, OS Yes, OS Small optic disc; partly coloboma; posterior staphyloma; NA 29 29 No OD Yes[iovs.arvojournals.org] On examination, the child has microphthalmia, microcornea, low set ears, microcephaly {head circumference 44 cm}.[pediatriconcall.com]

    Missing: Persistent Notochordal Canal

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