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1,939 Possible Causes for Holoprosencephaly, Panhypopituitarism, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia.[ncbi.nlm.nih.gov] ) 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]

  • Septo-Optic Dysplasia

    […] septo-optic dysplasia (SOD) is the triad of optic nerve hypoplasia, panhypopituitarism, and agenesis of septum pellucidum, and has been described previously to be associated[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] […] scanned for HESX1 mutations in 228 patients with a broad spectrum of congenital pituitary defects, ranging in severity from isolated growth hormone deficiency to SOD with panhypopituitarism[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[aafp.org] Hematologic disorders Congenital hemolytic icterus Polycythemia vera Sickle cell anemia Thalassemia Iatrogenic disorders Hydrocephalus with shunt Malformations Encephalocele Holoprosencephaly[cincinnatichildrens.org]

    Missing: Panhypopituitarism
  • Isolated optic nerve hypoplasia

    […] telangiectasia Kallmann syndrome Myhre syndrome Neurologic Waardenburg-Shah syndrome Waardenburg-Shah syndrome 46,XX testicular disorder of sex development Monosomy 22q13 Panhypopituitarism[csbg.cnb.csic.es] […] delay) [ 5 ] and/or sleep disturbances can occur. [ 2 ] Clinical features There is a broad spectrum of pituitary problems ranging from isolated growth hormone deficiency to panhypopituitarism[patient.info] In an infant with optic nerve hypoplasia, a history of neonatal jaundice suggests congenital hypothyroidism, while neonatal hypoglycemia or seizures suggests congenital panhypopituitarism[entokey.com]

    Missing: Syndactyly between Adjacent Toes
  • Paraparesis

    The term panhypopituitarism is also commonly used when only anterior pituitary hormones are deficient.[britannica.com] 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] In panhypopituitarism, the gland produces an insufficient amount of hormones. Figure 1 3.[pt.slideshare.net]

    Missing: Syndactyly between Adjacent Toes
  • Panhypopituitarism

    Head MRI should be done in all the children suspected to have with panhypopituitarism.[symptoma.com] 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] A diagnosis of suprasellar tuberculoma with panhypopituitarism was made.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Kallmann Syndrome

    Commonly Associated Conditions Genetic overlap between KS and other midline defects include, but are not limited to, septo-optic dysplasia and holoprosencephaly ( 2 )[ C ][unboundmedicine.com]

    Missing: Syndactyly between Adjacent Toes
  • Empty Sella Syndrome

    Hormonal evaluation and cranial MRI revealed a panhypopituitarism with empty sella.[ncbi.nlm.nih.gov] Holoprosencephaly - abnormal development of the embryonic forebrain resulting in hypothalamic abnormalities and facial dysmorphism e.g. cleft palate, hypertelorism (widely[ncbi.nlm.nih.gov] We present an 18-month-old girl with short stature, obesity, panhypopituitarism, diabetes insipidus, and visual defects.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Hypopituitarism

    The lack of all pituitary hormones is known as panhypopituitarism.[cincinnatichildrens.org] 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
  • Hypothalamic Lesion

    The patient reported by Milligan et al. (8) presented clinical and laboratory evidence of anterior panhypopituitarism.[path.upmc.edu] Gelastic seizure with tectal tumor, lobar holoprosencephaly and subependymal nodules: Clinical report. J Child Neurol 2002;17:152-4. [ PUBMED ] 14.[annalsofian.org] panhypopituitarism.[medical-dictionary.thefreedictionary.com]

    Missing: Syndactyly between Adjacent Toes

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