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14 Possible Causes for Congenital Eye Anomaly, Failure to Thrive, Nodular Heterotopia of the Grey Matter

  • Lissencephaly

    Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle and is mainly linked to mutations in the Filamin A (FLNA[ncbi.nlm.nih.gov] Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy[ncbi.nlm.nih.gov]

  • Congenital Malformation

    Nodular heterotopias of grey matter are found in association with other migration disorders and may be the cause of partial seizures.[jnnp.bmj.com] These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition.[ghr.nlm.nih.gov] 740 Anencephalus and similar anomalies 741 Spina bifida 742 Other congenital anomalies of nervous system 743 Congenital anomalies of eye 744 Congenital anomalies of ear face[icd9data.com]

  • Lissencephaly 6 with Microcephaly

    Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[twoifbyfaith.com] Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1. Entry No: 236670. Last Edited September 4, 2015. Available at: .[rarediseases.org] Possible symptoms of lissencephaly include: Failure to thrive: Failure to thrive is a condition often seen in newborns in which growth is not occurring as expected.[verywell.com]

  • Blepharofacioskeletal Syndrome

    MRI of the brain and spine ( Figure 4g–i ) showed nodular subependymal grey matter heterotopia bilaterally in the bodies and occipital horns of the lateral ventricles.[nature.com] […] to thrive Spasticity Prominent nasal bridge Microtia Gastroesophageal reflux Poor speech Oligodactyly Talipes equinovarus Underdeveloped nasal alae Breast hypoplasia Emphysema[mendelian.co] 横山 裕司 567 226 Dubin-Johnson syndrome 伊藤 進 569 227 Dubowitz syndrome 塚原 正人 571 228 dwarfism (short limbed)-Peters anomaly of the eye 小崎健次郎 574 229 dwarfism, dyssegmental,[nippon-rinsho.co.jp]

  • Basal Encephalocele

    Nodular subependymal grey matter heterotopia was noted along the lateral margin of the lateral ventricles ( Figure 3 ).[ncbi.nlm.nih.gov] […] to thrive may be seen. [4] These patients have increased chance of respiratory tract infection due to regurgitation of feed through cleft palate; therefore, optimisation[saudija.org] Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 MedGen UID: 461761 • Concept ID: C3150411 • Disease or Syndrome Congenital muscular[ncbi.nlm.nih.gov]

  • Neuronal Migration Defect

    , whereas the DCX mutant brains showed more nodular heterotopia and irregular disruptions of the grey matter-white matter junction.[doi.org] Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] […] with brain and eye anomalies), type A, 8 AR 4 9 POMT1 Muscular dystrophy-dystroglycanopathy AR 41 94 RAB3GAP1 Warburg micro syndrome AR 23 62 RAB3GAP2 # Warburg micro syndrome[blueprintgenetics.com]

  • Pachygyria-Mental Retardation-Seizures

    Heterotopia present as nodular foci of grey matter intensity on all sequences. They do not enhance. Heterotopia Images of a typical subependymal heterotopia.[radiologyassistant.nl] Other symptoms may include: difficulty feeding failure to thrive intellectual impairment malformed fingers, toes, or hands muscle spasms psychomotor impairment seizures trouble[healthline.com] An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound[nectarmutation.org]

  • Cerebro-Facio-Articular Syndrome

    MRI of the brain and spine ( Figure 4g–i ) showed nodular subependymal grey matter heterotopia bilaterally in the bodies and occipital horns of the lateral ventricles.[nature.com] People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at the expected rate (failure to thrive), and respiratory complications[findzebra.com] Radiologia Diagnostica 24(2): 175-179, 1983 Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of[eurekamag.com]

  • Complex Cortical Dysplasia with other Brain Malformations Type 4

    Nodular heterotopias of grey matter are found in association with other migration disorders and may be the cause of partial seizures.[jnnp.bmj.com] Children in this group present with severe ID, spastic quadriparesis, gastroesophageal reflux, and poor feeding, leading to failure to thrive.[neupsykey.com] (Congenital With Brain And Eye Anomalies), Type A, 4 Fukuyama Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKTN-Related MDDGA4 FCMD[ukgtn.nhs.uk]

  • Complex Cortical Dysplasia with other Brain Malformations Type 3

    Nodular heterotopias of grey matter are found in association with other migration disorders and may be the cause of partial seizures.[jnnp.bmj.com] […] to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head.[en.wikipedia.org] (Congenital With Brain And Eye Anomalies), Type A, 4 Fukuyama Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKTN-Related MDDGA4 FCMD[ukgtn.nhs.uk]

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