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1,823 Possible Causes for Cerebellar Hypoplasia, Non-Communicating Isolated Syringomyelia

Did you mean: Cerebellar Hypoplasia, Non-Communicating, Isolated Syringomyelia

  • Arnold-Chiari Malformation Type 1

    hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation[] Type IV is a form a cerebellar hypoplasia.[] […] of the occipital lobe through the foramen magnum Chiari 0 malformation syrinx without cerebellar tonsillar or brain stem descent infrequently used and confusing term to be[]

  • Hoyeraal-Hreidarsson Syndrome

    We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[] Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and[] Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental[]

    Missing: Non-Communicating Isolated Syringomyelia
  • Dysequilibrium Syndrome

    From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[] cerebellar ataxia associated with cerebellar hypoplasia.[] An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[]

    Missing: Non-Communicating Isolated Syringomyelia
  • Lissencephaly

    A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[] Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH).[]

    Missing: Non-Communicating Isolated Syringomyelia
  • Dyskeratosis Congenita

    hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[] hypoplasia More severe disorders and complications include The development in 80% of patients, most often in the second decade of life, of bone marrow deficiency of variable[] The original descriptions of HH all included cerebellar hypoplasia [ 13 - 15 ], and we suggest that documentation of cerebellar hypoplasia ( Figure 2 ) is required to make[]

    Missing: Non-Communicating Isolated Syringomyelia
  • Aprosencephaly and Cerebellar Dysgenesis

    This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[] hypoplasia.[] Hypoplasia And Distinctivefacial Appearance Microcephaly, Autosomal Dominant Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy Midline Malformations[]

    Missing: Non-Communicating Isolated Syringomyelia
  • PHACE Syndrome

    We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma.[] The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%).[] Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum .[]

    Missing: Non-Communicating Isolated Syringomyelia
  • Congenital Merosin-Positive Muscular Dystrophy

    The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[] Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly4,8[] hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form Mental retardation[]

    Missing: Non-Communicating Isolated Syringomyelia
  • Dandy-Walker Syndrome

    hypoplasia, hydrocephalus, and posterior fossa cyst formation.[] Vermian hypoplasia was present in 36 (88%) cases, while cerebellar hypoplasia was documented in 27 (59%) of these patients.[] Magnetic resonance imaging showing Dandy-Walker malformation of the cerebellum, a large cerebrospinal fluid collection in the posterior fossa (A), marked cerebellar hypoplasia[]

    Missing: Non-Communicating Isolated Syringomyelia
  • Mega-Cisterna Magna

    Differential diagnosis includes Dandy-Walker malformations and variants , cerebellar hypoplasia, posterior fossa arachnoid cyst , and epidermoid cysts .[] […] magna is closely related to cerebellar hypoplasia.[] hypoplasia Dandy-Walker malformation[]

    Missing: Non-Communicating Isolated Syringomyelia

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