Create issue ticket

2,395 Possible Causes for Cerebellar Hypoplasia, Neonatal Hypotonia, Non-Communicating Isolated Syringomyelia

Did you mean: Cerebellar Hypoplasia, Neonatal Hypotonia, 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[en.wikipedia.org] cerebellar ataxia associated with cerebellar hypoplasia.[ncbi.nlm.nih.gov] An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[ncbi.nlm.nih.gov]

    Missing: 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[radiopaedia.org] Type IV is a form a cerebellar hypoplasia.[hon.ch] […] 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[radiopaedia.org]

    Missing: Neonatal Hypotonia
  • Congenital Merosin-Positive Muscular Dystrophy

    hypotonia Low muscle tone, in neonatal onset 0001319 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Respiratory insufficiency due to muscle[rarediseases.info.nih.gov] 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.[ncbi.nlm.nih.gov] The early onset form is most commonly associated with a complete absence of merosin on muscle biopsy with profound neonatal hypotonia, possible respiratory distress and feeding[clinicaltrials.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Down Syndrome

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[patient.info] As demonstrated in a mouse model, DS is associated with cerebellar hypoplasia and a decreased number of cerebellar granule neuron progenitor cells (CGNPs) in the external[ncbi.nlm.nih.gov] Motor control and hypotonia Neonates with DS present with muscle hypotonia and many individuals with DS demonstrate some form of motor impairment, often described as clumsiness[doi.org]

    Missing: Non-Communicating Isolated Syringomyelia
  • Nemaline Myopathy

    RESULTS: Two patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which[ncbi.nlm.nih.gov] hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with[se-atlas.de] The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia.[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Oculocerebrorenal Syndrome

    Neonatal hypotonia can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills (i.e. sitting, standing, and walking).[secure.ssa.gov] Neuropathological findings are variable and non-specific and may include ventriculomegaly, brain atrophy, cerebellar hypoplasia, pachygyria, polymicrogyria, aberrant neuronal[doi.org] Symptoms and Signs Affected individuals have congenital cataracts, glaucoma, corneal leukomas, renal failure, curved growth in subsequent years, and neonatal hypotonia.[medigest.uk]

    Missing: Non-Communicating Isolated Syringomyelia
  • Spinal Muscular Atrophy

    […] birth in the neonates.[ncbi.nlm.nih.gov] The Chiari type II malformation is characterized by cerebellar hypoplasia and varying degrees of caudal displacement of the lower brainstem into the upper cervical canal through[emedicine.medscape.com] Spinal Muscular Atrophy should be kept in mind in the differential diagnosis for unexplained severe generalized hypotonia and severe respiratory distress immediately after[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • MERRF Syndrome

    Links: Neuromuscular PubMed Central Symptoms: Three forms: Congenital myopathy: Neonatal weakness, hypotonia requiring assisted ventilation, possible renal dysfunction.[umdf.org] […] striatal necrosis, cerebellar hypoplasia, infarcts, leukoencephalopathy.[neuropathology-web.org] The neuroimaging findings of mitochondrial disorders include abnormal signal in the basal ganglia, basal ganglia calcificatand ion, cerebral and cerebellar atrophy, bilateral[neuropathology-web.org]

    Missing: Non-Communicating Isolated Syringomyelia
  • Globoid Cell Leukodystrophy

    The neurological signs differed from those of other feline inborn neurometabolic diseases and cerebellar hypoplasia.[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Hoyeraal-Hreidarsson Syndrome

    Hypotonia Miles-Carpenter syndrome miliaria Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome mitochondrial DNA[rgd.mcw.edu] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia

Similar symptoms