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14 Possible Causes for Agenesis of Corpus Callosum, Myoclonic Jerking, Proximally Placed Thumb

  • Aicardi's Syndrome

    Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable[ncbi.nlm.nih.gov] Asymmetric myoclonic jerks developed at one month of age.[ncbi.nlm.nih.gov] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[ncbi.nlm.nih.gov]

  • Chromosome 17p13.1 Deletion Syndrome

    Perioral and eyelid myoclonic jerks may accompany these events.[epilepsydiagnosis.org] Syndrome (aka: Agenesis of Corpus Callosum and Chorioretinal Abnormality; Agenesis of Corpus Callosum With Chorioretinitis Abnormality; Agenesis of Corpus Callosum With Infantile[docs.google.com] Most have hypotonia, constipation, and partial agenesis of the corpus callosum.[mendelian.co]

  • Genee-Wiedemann Syndrome

    Clinical: Moderate progressive mental retardation; skeletal changes of dysostosis multiplex; peripheral neuropathy; myoclonic jerks; tremor; cerebellar signs ; gait abnormalities[dentisty.org] ., agenesis of the corpus callosum and proteinuria), the disorders are now considered to represent the same entity ( Kantarci et al., 2007 ).[mendelian.co] In addition, the thumb may be small and proximally placed.[link.springer.com]

  • Ring Chromosome 15

    The types of seizures include myoclonic (‘jerks’), atonic or astatic (‘drops’) and tonic (‘stiffening’) seizures.[epilepsy.org.uk] Furthermore agenesis of the corpus callosum is reported for the first time in 9p syndrome, 2.Ring chromosome 13 syndrome in an adult male with mild mental retardation ABSTRACT[matsuishi-lab.org] GTG banding manifestations include hypotonia, foot deformation, karyotype in our patient revealed that the 18p11.32 proximally placed thumbs, arthritis/stenotic ear and canals[docksci.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Raymond et al (2008) noted that M-D due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia.[aetna.com] Individuals with XLAG may also have agenesis of the corpus callosum.[chginc.org] […] set thumb - Scoliosis - Short neck - Short / small nose - Simian crease / transverse / unique palmar crease - Undescended / ectopic testes / cryptorchidia / unfixed testes[csbg.cnb.csic.es]

  • Ring Chromosome 10

    Perioral and eyelid myoclonic jerks may accompany these events.[epilepsydiagnosis.org] Furthermore agenesis of the corpus callosum is reported for the first time in 9p syndrome, 2.Ring chromosome 13 syndrome in an adult male with mild mental retardation ABSTRACT[matsuishi-lab.org] GTG banding manifestations include hypotonia, foot deformation, karyotype in our patient revealed that the 18p11.32 proximally placed thumbs, arthritis/stenotic ear and canals[docksci.com]

  • SHORT Syndrome

    Myoclonic seizures (brief shock-like jerks of a muscle or group of muscles) appear between 1 and 5 years in 85% of children with Dravet syndrome.[epilepsy.com] Patient 12 had an MRI scan, which showed cerebral ventriculomegaly, partial agenesis corpus callosum and loss of white matter in the periventricular regions.[nature.com] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Ring Chromosome 11 Syndrome

    Perioral and eyelid myoclonic jerks may accompany these events.[epilepsydiagnosis.org] A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, formix and septum pellucidum.[degruyter.com] GTG banding manifestations include hypotonia, foot deformation, karyotype in our patient revealed that the 18p11.32 proximally placed thumbs, arthritis/stenotic ear and canals[docksci.com]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    jerks), and with sleep apnea. 8 Metabolic screening tests should be initiated.[aafp.org] There was associated partial agenesis of the corpus callosum.[iamg.in] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Baraitser Syndrome

    A 6-year-old boy began showing epileptic seizures and myoclonic jerks shortly after birth.[medpagetoday.com] Microcephaly and morphological aberrations in the brain such as lissencephaly, agenesis of the corpus callosum and pachygyria are present.[disorders.eyes.arizona.edu] The thumbs were proximally placed, with short distal phalanges and small nails. The halluces were elongated and narrow with small nails.[omim.org]

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