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5,770 Possible Causes for Holoprosencephaly, Hypothyroidism, Syndactyly between Adjacent Toes

  • Craniosynostosis Type 3

    […] craniosynostosis, frontal bossing, frontal encephalocele, clinodactyly, neural tube defects, genital anomalies, CNS anomalies (hypoplasia of corpus callosum) and primary hypothyroidism[bredagenetics.com] Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] Goldenhar syndrome Gorlin syndrome Granuloma Annulare Granulomatosis with polyangiitis Griscelli disease type 2 Growth Hormone Deficiency Harlequin syndrome Hashimoto Hashimoto hypothyroidism[sanfordresearch.org]

  • 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] In lobar holoprosencephaly which is the least severe form of other holoprosencephalies (alobar and semilobar), there is always varying degrees of fusion of the two cerebral[em-consulte.com] She was diagnosed with growth hormone deficiency, hypothyroidism, diabetes insipidus, and adrenal insufficiency. Thus, this case was regarded as septo-optic dysplasia.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Pallister-Hall Syndrome

    The pituitary gland is located at the base of the brain and regulates hormones for the body, and its impaired function can cause hypothyroidism, growth hormone deficiency,[ucsdguardian.org] ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[atlasgeneticsoncology.org]

  • 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] ., cleft palate, septo-optic dysplasia, or holoprosencephaly).[hawaii.edu] […] found were pituitary gland hypoplasia or aplasia, ectopic pituitary gland, septooptic dysplasia, isolated absence of septum pellucidum, stalk abnormalities, empty sella, and holoprosencephaly[academic.oup.com]

    Missing: Syndactyly between Adjacent Toes
  • Ring Chromosome 18

    The reason for the development of hepatitis in association with hypothyroidism is unexplained.[ncbi.nlm.nih.gov] 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis, holoprosencephaly[rarediseases.info.nih.gov] Holoprosencephaly has been reported in some people with ring 18.[en.wikipedia.org]

    Missing: Syndactyly between Adjacent Toes
  • Syndrome of Inappropriate Antidiuretic Hormone Secretion

    Urine sodium : This will be seen to be relatively raised, in the context of the decreased serum sodium concentration TFTs: Hypothyroidism is a cause of SIADH – T3 & TSH would[geekymedics.com] Alobar holoprosencephaly (AHP) is a serious malformation of the central nervous system characterized by complete failure of cleavage of the prosencephalon resulting in fusion[ncbi.nlm.nih.gov] We report a 9 month-old male infant suffering form holoprosencephaly developed syndrome of inappropriate secretion of antidiuretic hormone followed by diabetes insipidus within[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Growth Hormone Deficiency

    A positive thyroid autoantibody titer confirmed the diagnosis of chronic lymphocytic thyroiditis with hypothyroidism.[ncbi.nlm.nih.gov] Other abnormalities associated with GHD include hypothalamo-pituitary axis tumours such as craniopharyngioma, septo-optic dysplasia, corpus callosum hypoplasia/agenesis, holoprosencephaly[adc.bmj.com] […] developmental delay AD [ 109 , 110 ] X‐linked panhypopituitarism (312000, 300123) SOX3 GHD or CPHD, mental retardation XLR [ 18 , 109 , 110 ] Pellister‐Hall syndrome (146510) FGF8 Holoprosencephaly[intechopen.com]

    Missing: Syndactyly between Adjacent Toes
  • Hypopituitarism

    Antithyroid antibodies, in the normal range three months postpartum, became significantly elevated when the hypothyroidism appeared.[ncbi.nlm.nih.gov] Developmental central nervous system (CNS) defects: • Anencephaly • Holoprosencephaly • Pituitary aplasia or hypoplasia IDIOPATHIC 11.[slideshare.net] The highly variable phenotype may consist of isolated hypopituitarism, or more complex disorders such as septo-optic dysplasia and holoprosencephaly.[web.archive.org]

    Missing: Syndactyly between Adjacent Toes
  • Cenani Syndactylism

    You are here Research Research Articles Cenani–Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia A Case Report[ncd.org.jo] Definition : A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[reference.md] , Microphthalmia with coloboma SIX3 Holoprosencephaly TGIF1 Holoprosencephaly ZIC2 Holoprosencephaly ACTB Baraitser-Winter syndrome ACTG1 Baraitser-Winter syndrome, Deafness[genda.com.ar]

  • Panhypopituitarism

    Neuroimaging was suggestive of tuberculomas in suprasellar cistern, while endocrinological investigation showed panhypopituitarism manifesting as pituitary hypothyroidism,[ncbi.nlm.nih.gov] Sarcoidosis Commonly Associated Conditions Midline defects such as cleft lip/palate, hypotelorism, single central maxillary incisor Septo-optic dysplasia (de Morsier syndrome) Holoprosencephaly[unboundmedicine.com] The clinical presentation of the panhypopituitarism patient can vary from asymptomatic or subclinical cases to life-threatening myxedema coma.[omicsgroup.org]

    Missing: Syndactyly between Adjacent Toes

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