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1,169 Possible Causes for Agenesis of Corpus Callosum, Failure to Thrive, Hypothyroidism

  • Septo-Optic Dysplasia

    At the age of 27 months hypothyroidism due to TSH deficiency developed. The auxological and neurological follow-up is reported.[ncbi.nlm.nih.gov] Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[ncbi.nlm.nih.gov] An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child.[ncbi.nlm.nih.gov]

  • Growth Failure

    First, patients with myxedema and pericardial effusion secondary to hypothyroidism may not tolerate becoming euthyroid rapidly, potentially worsening symptoms of heart failure[jmedicalcasereports.biomedcentral.com] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Cranial defects may present with wide heads, flat noses, cleft lip/palate, hypertelorism, agenesis of the corpus callosum, hypopituitarism, posterior pituitary ectopia, basal[f1000research.com]

  • Marshall-Smith Syndrome

    .: Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult. J. med.[link.springer.com] 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]

  • Sanjad-Sakati Syndrome

    It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye,[ncbi.nlm.nih.gov] We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia.[ncbi.nlm.nih.gov] Partial Agenesis of Corpus Callosum in Sanjad-Sakati Syndrome (p-ACC) To send this article to your Dropbox account, please select one or more formats and confirm that you[cambridge.org]

  • Monosomy 1p36 Syndrome

    Other features commonly associated are behavioural anomalies including hyperphagia and self-injuring, seizures, congenital heart disease and hypothyroidism.[ncbi.nlm.nih.gov] Hypotonia and feeding difficulties with failure to thrive were observed since birth. His weight was only 6kg until 1 year of age.[enlivenarchive.org] Affiliated tissues include brain, heart and eye, and related phenotypes are agenesis of corpus callosum and intellectual disability Genetics Home Reference : 26 1p36 deletion[malacards.org]

  • Hypopituitarism

    Antithyroid antibodies, in the normal range three months postpartum, became significantly elevated when the hypothyroidism appeared.[ncbi.nlm.nih.gov] , fatigue Children/infants – failure to thrive Posterior pituitary (hypothalamic) Central diabetes insipidus Adults – polydipsia, polyuria, nocturia Children – vomiting, diarrhea[arupconsult.com] HESX1 HESX1 mutations result in septo-optic dysplasia (pituitary hypoplasia, optic nerve hypoplasia, and midline defects such as agenesis of the corpus callosum).[endocrinologyadvisor.com]

  • Wolcott-Rallison Syndrome

    We report on primary hypothyroidism, which has not been previously described, of a patient with Wolcott-Rallison syndrome due to novel mutation (W521X), who showed improved[ncbi.nlm.nih.gov] Clinical follow up of the affected individuals shows that in at least some of them, PNDM was associated with short stature, failure to thrive, neurodevelopmental delay, epilepsy[ncbi.nlm.nih.gov] […] of the corpus callosum with peripheral neuropathy 218000 S LC16A2 Xq13.2 Allan-Herndon-Dudley syndrome 300523 S LC17A5 6q13 Salla disease 604369 Sialic acid storage disorder[institutobernabeu.com]

  • Schinzel-Giedion Syndrome

    We describe a female child with this syndrome and a clinical status complicated by hypernatremic dehydration, hypothyroidism and diabetes insipidus at the age of 10 months[ncbi.nlm.nih.gov] […] to thrive.[checkorphan.org] Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy.[ncbi.nlm.nih.gov]

  • Thalassemia

    After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome[ncbi.nlm.nih.gov] He required regular blood transfusions in view of a Hb level of 7.0 g/dL and failure to thrive. He had thalassemic red cell indices and peripheral blood film.[ncbi.nlm.nih.gov] In two cases, partial or complete agenesis of the corpus callosum was reported. Autopsy reports were available for only three cases.[ojrd.com]

  • Fetal Warfarin Syndrome

    […] malformation syndromes due to known exogenous causes, not elsewhere classified 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 2 Excludes iodine-deficiency-related hypothyroidism[icd10data.com] […] to thrive Numerology Chaldean Numerology The numerical value of fetal warfarin syndrome in Chaldean Numerology is: 6 Pythagorean Numerology The numerical value of fetal warfarin[definitions.net] […] of corpus callosum microcephaly microphthalmia congenital cataracts cardiovascular congenital cardiac anomalies Warfarin is a teratogenic drug.[radiopaedia.org]

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