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899 Possible Causes for Cerebellar Hypoplasia, Walking Delay

  • Congenital Merosin-Positive Muscular Dystrophy

    Delayed ability to roll over Delayed ability to stand with support Delayed ability to sit alone Delayed ability to walk alone (nearly half walk after 4 years) Mild facial[checkorphan.org] 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] Some children will walk, but sometimes this can be delayed until the age of five or older. Leg splints are often used to assist a child to walk.[mobilephysiotherapyclinic.in]

  • Autosomal Recessive Spastic Paraplegia Type 18

    They all presented in the first 2 years of life with developmental delay, delayed walking, abnormal gait, and mild to severe mental retardation.[cags.org.ae] hypoplasia and arthrogryposis 616531 600286 Autosomal recessive PIEZO2 18p11.22-p11.21 ?[mnglabs.com] […] motor development Delayed motor skills 0002194 Difficulty walking Difficulty in walking 0002355 Elbow flexion contracture Contractures of elbows Elbow contracture Elbow contractures[rarediseases.info.nih.gov]

  • Hoyeraal-Hreidarsson Syndrome

    While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing and walking, developmental delay may occur in some[ghr.nlm.nih.gov] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Skin rash Kyphoscoliosis Steppage gait Decreased nerve conduction velocity Progressive muscle weakness Split hand Delayed myelination Juvenile onset Abnormality of the foot[mendelian.co]

  • Joubert Syndrome Type 3

    […] the eyes and thus require regular monitoring. [4] Prognosis [ edit ] In a sample of 19 children, a 1997 study found that 3 died before the age of 3, and 2 never learned to walk[en.wikipedia.org] AB - Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I.[rug.nl] MTS results from hypoplasia of the cerebellar vermis and midbrain-hindbrain malformations.[orpha.net]

  • Dyskeratosis Congenita

    While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing and walking, developmental delay may occur in some[ghr.nlm.nih.gov] hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov] 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[afdc.asso.fr]

  • Dysequilibrium Syndrome

    The recognized symptoms of VLDLRCH are moderate-to-severe intellectual disability, seizures, dysarthria, strabismus and delayed locomotion.[en.wikipedia.org] 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] Children either learn to walk very late (often after age 6 years) or never achieve independent ambulation. Management.[ncbi.nlm.nih.gov]

  • Lissencephaly

    The different areas of development that may be delayed include: Motor skills (Gross and Fine)– e.g. rolling, sitting up, walking or picking up smack objects Speech and language[owenjamesdicandilo.com] A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[ncbi.nlm.nih.gov] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[doi.org]

  • Arnold-Chiari Malformation Type 1

    Developmental delays may require further medical follow up for underlying problems.[urmc.rochester.edu] 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]

  • Aprosencephaly and Cerebellar Dysgenesis

    Sx include delayed sphincter control and walking, back and leg pain, scoliosis, pes cavus, leg asymmetry. Infants of diabetic mothers are at risk.[sites.google.com] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org] hypoplasia.[link.springer.com]

  • Dandy-Walker Syndrome

    […] babies, symptoms of Dandy-Walker malformation occur during the first year of life, and may include: Increasing head size (due to hydrocephalus) Intellectual disabilities Delayed[fetaltonewborn.org] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] Development is often affected, particularly with delay in motor skills such as crawling and walking. Spastic paraplegia and seizures may be present.[patient.info]

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