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127 Possible Causes for Cerebellar Hypoplasia, Reduced Fetal Movement

  • Congenital Merosin-Positive Muscular Dystrophy

    Onset is often at birth with congenital proximal contractures and arthrogryposis caused by reduced fetal movements, hypotonia, and early hyperlaxity of distal joints (Figure[academlib.com] 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] A history of reduced fetal movements in pregnancy and polyhydramnios can be elicited in most instances.[mrineonatalbrain.com]

  • Congenital Muscular Dystrophy

    The pregnancy history displays reduced fetal movements and poli-hydramnios. Clinical signs are present at birth.[doi.org] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org] Other common findings include hydrocephalus, brainstem and/or cerebellar hypoplasia, cerebellar cysts, cobblestone lissencephaly, and polymicrogyria.[symptoma.com]

  • Gaucher Disease, Collodion Type

    The fourth pregnancy initially appeared to be progressing normally, although the mother did comment that she felt fetal movement was somewhat reduced.[doi.org] , see VLDLR-associated cerebellar hypoplasia cerebellar hypoplasia, VLDLR-associated , see VLDLR-associated cerebellar hypoplasia cerebello-oculo-renal syndrome , see Joubert[elbiruniblogspotcom.blogspot.com] hypoplasia Sporadic Sparse hair Short telomere length Nail dystrophy Fine hair Hyperpigmentation of the skin Purpura Bone marrow hypocellularity Megalocornea Aplastic anemia[mendelian.co]

  • Miller Dieker Syndrome

    History of polyhydramnios, intrauterine growth retardation and reduced fetal movements are associated with MDS.[ijcasereportsandimages.com] hypoplasia TUBA1A AD TUBB2B Lissencephaly with cerebellar hypoplasia, reelinopathy type Mild frontal lissencephaly w/severe cerebellar hypoplasia RELN AR VLDLR Cobblestone[ncbi.nlm.nih.gov] hypoplasia) PAFAH1B1 AD DCX X-linked TUBA1A AD Lissencephaly with cerebellar hypoplasia, tubulin type Diffuse or posterior predominant lissencephaly w/moderate to severe cerebellar[ncbi.nlm.nih.gov]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    Antenatally, the mother, noticed reduced fetal movements in the last 2 weeks of gestation, and there was polyhydramnios on antenatal scans.[avicennajmed.com] […] defect in VRK1 gene on chromosome 14q atrophy of the cerebral cortex, cerebellar and brain stem hypoplasia, absent dendate nucleus, loss of neurons in the basal ganglia Clinical[amboss.com] There may be a history of reduced fetal movements in utero. Mortality/morbidity : median survival is 7 months - 95% die before 18 months.[patient.info]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    hypoplasia, and epilepsy.[treatneuro.com] hypoplasia Cerebellar cyst High palate Kyphoscoliosis Myopathy Delayed gross motor development Strabismus Skeletal muscle atrophy Waddling gait Infantile muscular hypotonia[mendelian.co] These siblings also had underdevelopment of the cerebellum (cerebellar hypoplasia), which can cause problems with balance and coordination.[rarediseases.org]

  • Smith Lemli Opitz Syndrome

    hypoplasia and austism behaviors.[ncbi.nlm.nih.gov] .: A “new” lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortens of limbs,[link.springer.com] […] ataxia, mental retardation and dysequlibrium syndrome Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar[rgd.mcw.edu]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    From Etiology see pathology Pathology nonlethal form of arthrogryposis multiplex congenita congenital contractures may be caused by reduced fetal movements at sensitive times[anvita.info] , diaphragmatic hernia, obstructive uropathy, microcephaly, or cerebellar and pontine hypoplasia.[orpha.net] Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development.[uniprot.org]

  • Neu-Laxova Syndrome Type 2

    The tight skin of the fetus reduces fetal movement leading to failure of swallowing and contractures are development. [1] The exact cause for this condition has not been established[ijpmonline.org] These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum.[malacards.org] fetal movements; a short umbilical cord; and an abnormally small placenta.[rarediseases.org]

  • Wolf-Hirschhorn Syndrome

    Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes.[emedicine.medscape.com] […] myelination, and cerebellar anomalies.[emedicine.medscape.com] The clinical features are vast and known: general development deficit, cerebellar and olfactory nerve hypoplasias, agenesis of cerebral structures, hypotonia, seizures, low[scielo.iec.gov.br]

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