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29 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Umbilical Plaque

  • Marshall-Smith Syndrome

    It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced[ncbi.nlm.nih.gov] We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far.[ncbi.nlm.nih.gov] Marshall A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies.[whonamedit.com]

  • Acrocallosal Syndrome

    A seven year old female with severe developmental delays, failure to thrive and growth retardation, infantile spasms, a cardiac vascular ring and right-sided aortic arch,[ncbi.nlm.nih.gov] The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.[ncbi.nlm.nih.gov] […] to thrive Faltering weight Weight faltering [ more ] 0001508 Finger syndactyly 0006101 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor[rarediseases.info.nih.gov]

  • Patau Syndrome

    Infants who survive to one year have severe complications including intellectual disability, seizures and failure to thrive.[secure.ssa.gov] . * Agenesis of the Corpus Callosum * Enlarged Cisterna Magna. * Microcephaly. * Meningocele / encephalocele.[fetalultrasound.com] […] of the corpus callosum persistent stapedial artery 5 retinal dysplasia 3 spinal anomalies spina bifida intrauterine growth restriction (IUGR) : tends to be early abnormal[radiopaedia.org]

  • Smith Lemli Opitz Syndrome

    Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov] […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.[ncbi.nlm.nih.gov]

  • Costello Syndrome

    We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome.[ncbi.nlm.nih.gov] Antenatal diagnosis Detection of hypertelorism, agenesis of the corpus callosum, and either CDH or omphalocele by prenatal imaging should raise suspicion of DBS.[orpha.net] Wikidata Jump to navigation Jump to search syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure[wikidata.org]

  • Baraitser-Winter Syndrome 1

    […] to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263[rarediseases.info.nih.gov] Rutherford, Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia, Frontiers in Physiology, 10.3389/fphys.2019.00623[doi.org] Microcephaly and morphological aberrations in the brain such as lissencephaly, agenesis of the corpus callosum and pachygyria are present.[disorders.eyes.arizona.edu]

  • Trisomy 18

    Synopsis systemic anomalies intra-uterine growth retardation (IUGR) low feat activity polyhydramnios failure to thrive placental anomalies small placenta single umbilcal artery[humpath.com] […] of corpus callosum, limb defects (clenched hands, pes equinovarus).[ncbi.nlm.nih.gov] Prognosis Trisomy 18 is associated with severe mental retardation and severe failure to thrive. 50% of patients die by one week of life, and 90% of patients die by one year[pedclerk.bsd.uchicago.edu]

  • Velocardiofacial Syndrome

    Poor feeding and failure to thrive may result secondary to severe cardiac anomalies and congestive cardiac failure.[symptoma.com] Abstract We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] […] to thrive/dysphagia/gastroesophageal reflux disease (GERD), occasional growth hormone deficiency Recurrent infections/autoimmune disease Developmental delays, especially[unboundmedicine.com]

  • Ring Chromosome 22

    […] to thrive beyond the extent expected from their chromosomal imbalances (Kosztolanyi 1987). suggested that this is due to the mitotic instability of rings, preventing somatic[en.wikibooks.org] […] of the corpus callosum, fornix and septum pellucidum. ( 15305353 ) DelcA![malacards.org] […] of corpus callosum 0001274 Pleural effusion Fluid around lungs 0002202 Showing of 32 Last updated: 5/1/2019 Support and advocacy groups can help you connect with other patients[rarediseases.info.nih.gov]

  • Fetal Hydantoin Syndrome

    Failure to thrive, learning disability, and reduction of intellectual ability in infants with FHS are the area of greatest concern.[jisppd.com] […] of the corpus callosum and brain clefts.[hawaii.edu] There was failure to thrive and hypotonia.[rrnursingschool.biz]

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