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1,573 Possible Causes for Hypothalamic Lesion, Imperforate Anus, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    Hirschprung's disease and imperforate anus are described concurrently in a newborn with Pallister-Hall syndrome as well as the difficulties in making this diagnosis.[ncbi.nlm.nih.gov] Hypothalamic lesions have now been removed from older infants and children with this syndrome and reveal a more mature histologic appearance typical of a hypothalamic hamartoma[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]

  • Hypothalamic Hamartoma

    Yet the role of the hypothalamic lesion in the pathophysiology of the syndrome remains debatable.[ncbi.nlm.nih.gov] Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies[ncbi.nlm.nih.gov] […] with extra-hypothalamic lesions.[annalsofian.org]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Imperforate anus. Gastro-oesophageal reflux. Dental problems - delayed and unusual patterns of eruption; missing teeth.[patient.info]

    Missing: Hypothalamic Lesion
  • Hypothalamic Lesion

    anus, and others.[rarediseases.org] Her work-up demonstrated SIADH secondary to a discrete enhancing hypothalamic lesion.[ncbi.nlm.nih.gov] We examined an obese 58-year-old patient with a bilateral posterior hypothalamic lesion of unknown etiology.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Pallister W Syndrome

    Anal stenosis without imperforate anus has also been reported.[jmg.bmj.com] Hypothalamic lesions have now been removed from older infants and children with this syndrome and reveal a more mature histologic appearance typical of a hypothalamic hamartoma[karger.com] […] that is missing or blocked (imperforate anus), and kidney abnormalities.[thinkgenetic.com]

    Missing: Syndactyly between Adjacent Toes
  • Acrocallosal Syndrome

    We therefore designate the lesions in HLS as “hypothalamic hamartomas.”[redorbit.com] anus, infantile spasms and severe growth retardation.[ncbi.nlm.nih.gov] anus, hydronephrosis with a right renal cyst, syndactyly and abnormal white matter was a compound heterozygote for c.3365C G, predicting p.[jhu.pure.elsevier.com]

    Missing: Syndactyly between Adjacent Toes
  • Baller-Gerold Syndrome

    Anteriorly placed anus and imperforate anus with either perineal fistula or rectovaginal fistula are further features.[doi.org] We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset[ncbi.nlm.nih.gov] We report a patient with craniosynostosis, radial aplasia, imperforate anus, and several associated congenital anomalies.[ncbi.nlm.nih.gov]

    Missing: Hypothalamic Lesion Syndactyly between Adjacent Toes
  • Langerhans-Cell Histiocytosis

    CNS CNS lesions are most frequently found in the hypothalamic-pituitary region where they lead to endocrine disorders involving the hypothalamic-pituitary axis: Diabetes insipidus[patient.co.uk] […] mass lesions.[ncbi.nlm.nih.gov] She was proven to have hypothalamic and pituitary dysfunction including hypogonadism and hypoadrenalism. Her thyroid lesion did not recur after the thyroidectomy.[ncbi.nlm.nih.gov]

    Missing: Imperforate Anus Syndactyly between Adjacent Toes
  • Fraser Syndrome

    The frequency of additional anomalies in our series was also higher than previously reported (for example, imperforate anus or anal stenosis were found in 34/117 (29%) compared[ncbi.nlm.nih.gov] anus, bilateral renal agenesis, pulmonary hypoplasia, and hydrocephalus.[en.wikipedia.org] In addition to confirming the ultrasound findings the abortus also had imperforate anus and ambiguous genitalia.[jpgo.org]

    Missing: Hypothalamic Lesion Syndactyly between Adjacent Toes
  • Growth Failure

    All of the 22 subjects evaluated by MRI had documented organic lesions in the hypothalamic and pituitary regions.[academic.oup.com] […] malformation syndrome which consists of hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly and imperforate anus (see OMIM 146510, table 1) 30.[analesdepediatria.org] lesion.[emvmsa1a.jouve-hdi.com]

    Missing: Syndactyly between Adjacent Toes

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