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1,905 Possible Causes for Agenesis of Corpus Callosum, Dysplasia of the Cerebellar Hemispheres, 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] 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] A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] placed thumbs.[orpha.net] She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[ncbi.nlm.nih.gov]

    Missing: Dysplasia of the Cerebellar Hemispheres
  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003, Adam[ncbi.nlm.nih.gov] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003 , Adam[ncbi.nlm.nih.gov]

    Missing: Dysplasia of the Cerebellar Hemispheres
  • Partial Monosomy 18q

    Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[ojrd.biomedcentral.com] placed thumbs 33 Chorea 3 Nystagmus 30 Gap between 1st & 2nd toe 3 Palate abnormality 30 Low posterior hairline 3 Cleft 12 Scoliosis 3 High arched 15 Strawberry birthmark[labmed.hallym.ac.kr] Severe malformations of the brain associated with facial features such as cyplopia, cebocephaly, premaxillary agenesis, bilateral cleft lip and palate are present in 10–15[ojrd.biomedcentral.com]

    Missing: Dysplasia of the Cerebellar Hemispheres
  • Dandy-Walker Syndrome

    Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus.[ncbi.nlm.nih.gov] Obstetric ultrasound and fetal MRI studies showed hydrocephalus, agenesis of the cerebellar hemispheres, vermian hypoplasia, cystic dilatation of the 4(th) ventricle, enlargement[allmedx.com] We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum.[ncbi.nlm.nih.gov]

    Missing: Proximally Placed Thumb
  • Aprosencephaly and Cerebellar Dysgenesis

    Each fetus had complete absence of the telecephalon and pyramidal tracts, rudimentary diencephalic and mesencephalic structures, primitive cerebellar hemispheres, posterolateral[ncbi.nlm.nih.gov] Disorders of Midline Prosencephalic Development: Agenesis of Corpus Callosum Anomalous development of the 3 telencephalic commissures (corpus callosum, anterior commissure[sites.google.com] A classification proposed by Patel S in 2002 [5] divides cerebellar malformations in two broad groups; those with cerebellar hypoplasia and; those with cerebellar dysplasia[en.wikipedia.org]

    Missing: Proximally Placed Thumb
  • Aqueduct of Sylvius Anomaly

    The Dandy-Walker complex encompasses a range of hypoplasia or dysplasia of the cerebellar hemispheres and/or vermis which can be found in patients with numerous diagnoses[appliedradiology.com] Disorders of prosencephalic midline development, agenesis of the corpus callosum, agenesis of septum pellucidum, and septo-optic dysplasia, usually have less severe presentations[obgyn.mhmedical.com] Hydrocephalus is also sometime associated with agenesis of the corpus callosum - where the membrane that divides the two hemispheres of the brain does not form.[fetalhydrocephalus.com]

    Missing: Proximally Placed Thumb
  • Polymicrogyria

    The hippocampus was preserved and the cerebellar cortex normal but there was dentato-olivary dysplasia.[doi.org] MalaCards based summary : Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome An important gene associated with Microcephaly-Polymicrogyria-Corpus Callosum Agenesis[malacards.org] MRI showed agenesis of corpus callosum (ACC), an interhemispheric cyst, periventricular nodular heterotopia (PVNH), and extensive left frontal polymicrogyria (PMG).[ncbi.nlm.nih.gov]

    Missing: Proximally Placed Thumb
  • Pachygyria-Mental Retardation-Seizures

    Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. Acta Neuropathol. 1982; 56(3):161-6.[profiles.viictr.org] […] of corpus callosum is evident.[universeradiology.com] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[ojrd.biomedcentral.com]

  • Congenital Iris Coloboma

    MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[bioportal.bioontology.org] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[ojrd.biomedcentral.com] Associations CHARGE syndrome encephalocoele agenesis of the corpus callosum Jacobsen syndrome Treacher-Collins syndrome : rare Roberts syndrome : rare Gorlin-Goltz syndrome[radiopaedia.org]

    Missing: Dysplasia of the Cerebellar Hemispheres

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