Create issue ticket

636 Possible Causes for Cerebellar Vermis Hypoplasia

  • Nivelon-Nivelon-Mabille Syndrome

    vermis hypoplasia.[ncbi.nlm.nih.gov] vermis hypoplasia Head And Neck Eyes: iris hypoplasia optic disc coloboma Growth Height: dwarfism, severe antenatal Genitourinary External Genitalia Female: normal female[malacards.org] A severe form of congenital dwarfism, general chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, hypoplastic iris, and coloboma of the optic disc.[accessanesthesiology.mhmedical.com]

  • Joubert Syndrome Type 3

    The syndrome was thought to be caused by hypoplasia or aplasia of the midline cerebellar vermis [1,2].[jscimedcentral.com] Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor[humpath.com] vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images.[jclpca.org]

  • Joubert Syndrome Type 9 with Oculorenal Defect

    The unifying pathognomonic sign is a cerebellar vermis hypoplasia presenting in MRI as the so called “molar tooth sign”.[neocyst.de] Imaging Cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles and abnormally large interpeduncular fossa, giving the appearance of a[medical-dictionary.thefreedictionary.com] The syndrome was thought to be caused by hypoplasia or aplasia of the midline cerebellar vermis [1,2].[jscimedcentral.com]

  • Cortical Dysplasia Complex with Other Brain Malformations 5

    […] with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa.[uniprot.org] […] malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia[uniprot.org]

  • Hyperphosphatasia - Intellectual Disability Syndrome

    Neuroimaging findings showed thin corpus callosum in 9 patients, mild ventriculomegaly in 3 patients and variable degrees of cerebellar vermis hypoplasia in 4 patients, a[bionity.com]

  • Joubert Syndrome Type 15

    The unifying pathognomonic sign is a cerebellar vermis hypoplasia presenting in MRI as the so called “molar tooth sign”.[neocyst.de] Joubert syndrome (JS) and related disorders are characterized by the 'molar tooth sign' (cerebellar vermis hypoplasia and brainstem anomalies) on MRI, hypotonia, developmental[iths.pure.elsevier.com] All seven patients had cerebellar vermis hypoplasia on a magnetic resonance imaging scan.[jamanetwork.com]

  • Nephronophthisis

    vermis hypoplasia (Joubert syndrome), and multiple developmental and neurologic abnormalites (Meckel Gruber syndrome).[dnatesting.uchicago.edu] Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists.[oxfordmedicine.com] Severe hypoplasia of the cerebellar vermis. Fig. 1. MRI image. Severe hypoplasia of the cerebellar vermis. Fig. 2. MRI scans, axial section.[academic.oup.com]

  • Nephronophthisis

    vermis hypoplasia (Joubert syndrome), and multiple developmental and neurologic abnormalites (Meckel Gruber syndrome).[dnatesting.uchicago.edu] Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists.[oxfordmedicine.com] Severe hypoplasia of the cerebellar vermis. Fig. 1. MRI image. Severe hypoplasia of the cerebellar vermis. Fig. 2. MRI scans, axial section.[academic.oup.com]

  • Nephronophthisis

    vermis hypoplasia (Joubert syndrome), and multiple developmental and neurologic abnormalites (Meckel Gruber syndrome).[dnatesting.uchicago.edu] Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists.[oxfordmedicine.com] Severe hypoplasia of the cerebellar vermis. Fig. 1. MRI image. Severe hypoplasia of the cerebellar vermis. Fig. 2. MRI scans, axial section.[academic.oup.com]

  • CHARGE Syndrome

    Finally, we report cerebellar vermis hypoplasia in 35% of CHARGE syndrome patients with a proven CHD7 mutation.[ncbi.nlm.nih.gov] Five patients had cerebellar vermis hypoplasia (5/17, 29.4%) with no clinical symptoms or signs of cerebellar dysfunction.[ncbi.nlm.nih.gov] Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. J Hum Genet . 2016 Mar. 61 (3):235-9.[emedicine.com]

Further symptoms