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2,050 Possible Causes for Cognitive Developmental Delay, Neonatal Hypotonia, Wide Space Between the First and Second Toe

  • Down Syndrome

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[patient.info] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] […] variants: or Down's syndrome Definition of Down syndrome : a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in[merriam-webster.com]

  • TMEM70-Related Mitochondrial Encephalo-Cardio-Myopathy

    Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation , Pediatric Neurology Briefs, 2010, 39-40, DOI: 10.15844/pedneurbriefs-24-5-10[paperity.org] Most of the 28 patients with TMEM70 disorder reported to date display a distinctive phenotype characterised by neonatal onset of severe muscular hypotonia hypertrophic cardiomyopathy[jmg.bmj.com] Age of onset was neonatal in 41 patients, infantile in six cases and two years in one child.[wwww.unboundmedicine.com]

    Missing: Wide Space Between the First and Second Toe
  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    An autosomal recessive disorder (OMIM:614080) characterised by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, congenital cardiac, urinary[medical-dictionary.thefreedictionary.com] Definition An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies[uniprot.org] Clinical features are variable dependent on genotypes, often include (neonatal) hypotonia, seizures, various anomalies involving nervous system structural malformations, delayed[genome.jp]

    Missing: Wide Space Between the First and Second Toe
  • Early Infantile Epileptic Encephalopathy Type 2

    Our patient presented with neonatal hypotonia and feeding difficulties, then developed pharmacoresistant epileptic encephalopathy, characterized by multiple seizure types[ncbi.nlm.nih.gov] Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked disorder comprising severe developmental delay, facial dysmorphism, neonatal hypotonia,[synapse.koreamed.org]

    Missing: Wide Space Between the First and Second Toe
  • 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] Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications[ncbi.nlm.nih.gov] Symptoms and Signs Affected individuals have congenital cataracts, glaucoma, corneal leukomas, renal failure, curved growth in subsequent years, and neonatal hypotonia.[medigest.uk]

    Missing: Wide Space Between the First and Second Toe
  • Early Infantile Epileptic Encephalopathy Type 6

    Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death[ncbi.nlm.nih.gov] GLUT 1 (glucose transporter 1) deficiency presents with respiratory distress, hypotonia, absence of neonatal reflexes and less frequently with arthrogryposis or joint laxity[ijponline.biomedcentral.com] delay or cognitive outcome did not differ between both groups.[pediatricneurologybriefs.com]

    Missing: Wide Space Between the First and Second Toe
  • Neonatal Sepsis

    Patients and methods Patients This study was carried out in the neonatal ICU in Benha Children Hospital over 60 neonates presenting with late-onset neonatal septicemia.[mmj.eg.net] Brain damage Cognitive impairments Cerebral palsy Edema (fluid buildup in the brain) Brain abscesses (pus-filled pockets) Cerebral palsy Developmental delays Seizure disorders[michigancerebralpalsyattorneys.com] Neonatal sepsis or septicaemia is a clinical syndrome characterized by systemic signs of circulatory compromise (e.g., poor peripheral perfusion, pallor, hypotonia, poor responsiveness[journals.plos.org]

    Missing: Wide Space Between the First and Second Toe
  • Fetal Trauma

    The neonate can present with hypotonia, quadriplegia or paraplegia; plain radiographs, ultrasound and MRI can aid diagnosis [ 19 ].[ncbi.nlm.nih.gov] delays and cognitive impairments due to deceleration of heart rate, overuse of the delivery drug Pitocin and delivery-related trauma.[abclawcenters.com] An Overview Statute of Limitations Scholarship Contact Us The award-winning Detroit, MI attorneys at ABC Law Centers secured a 1.825 million settlement for a child with developmental[abclawcenters.com]

    Missing: Wide Space Between the First and Second Toe
  • Muscular Dystrophy-Dystroglycanopathy Type C9

    For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] LGMD 1B (lamin A/C) Childhood May have neonatal hypotonia. There is usually slow progression.[patient.info]

    Missing: Wide Space Between the First and Second Toe
  • Congenital Muscular Dystrophy Type 1D

    CMs are rare, but they are important because they cause neonatal hypotonia.[neuropathology-web.org] For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] […] acidosis syndrome Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyl transferase II deficiency, myopathic form Carnitine palmitoyl transferase II deficiency, neonatal[se-atlas.de]

    Missing: Wide Space Between the First and Second Toe

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