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5,196 Possible Causes for Holoprosencephaly, Mental Retardation, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) 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] Here, we describe a family with two affected children manifesting severe PHS with mental retardation, behavioral problems, and intractable seizures.[ncbi.nlm.nih.gov]

  • Patau Syndrome

    Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[revistas.usp.br] Survivors suffer from severe mental retardation and health problems all their lives.[symptoma.com] Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and[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] In most cases intelligence is normal, but some may show mental retardation.[bredagenetics.com] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[aafp.org]

  • Chromosome 18p Deletion Syndrome

    We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32–p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly[agris.fao.org] Knight Karger Medical and Scientific Publishers, 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[books.google.de] MalaCards based summary : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to 18p deletion syndrome and alobar holoprosencephaly.[malacards.org]

    Missing: Syndactyly between Adjacent Toes
  • Septo-Optic Dysplasia

    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] 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 11 and 1/2-year-old Caucasian Southeast European female patient with earlier established diagnoses of growth hormone deficiency, diabetes insipidus, seizures, mental retardation[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Aprosencephaly and Cerebellar Dysgenesis

    […] and a stillborn female infant with a lumbar meningocele, cebocephaly, and alobar holoprosencephaly (4, 5).[ajnr.org] Mental Retardation 11 (Mrx11, Xlmr11) X-Linked Mental Retardation 12 (Mrx12, Xlmr12) X-Linked Mental Retardation 13 (Mrx13, Xlmr13) X-Linked Mental Retardation 14 (Mrx14,[neo-genetics.com] Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly.[link.springer.com]

    Missing: Syndactyly between Adjacent Toes
  • Familial Porencephaly

    holoprosencephaly  Semilobar holoprosencephaly  Lobar holoprosencephaly 20.  Alobar holoprosencephaly: there is a complete absence of midline forebrain division, resulting[slideshare.net] Other symptoms include seizures, mental retardation, paralysis and deficient muscle tone.[amplexa.com] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intracranial hemorrhage Bleeding within the skull 0002170 Ischemic stroke[rarediseases.info.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Smith Lemli Opitz Syndrome

    The diagnosis of alobar holoprosencephaly was confirmed at 15 weeks of gestation, and cardiac and limb defects were also identified.[ncbi.nlm.nih.gov] Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[ncbi.nlm.nih.gov] It comprises a characteristic combination of facial features, malformations, and mental retardation.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Alobar Holoprosencephaly

    Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.[ncbi.nlm.nih.gov] Other symptoms can include mental retardation and seizure disorders.[disability-benefits-help.org] The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984; however, there have been only two reports of alobar holoprosencephaly diagnosed[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Partial Trisomy 13 in Patau Syndrome

    Key Words: Autopsy ; Trisomy ; Holoprosencephaly ; Karyotyping[jpatholtm.org] retardation may complicate survival Please rate topic.[medbullets.com] Six fingers in a baby with Patau syndrome 37-week gestational age male with Patau syndrome demonstrating alobar holoprosencephaly with cyclopia.[en.wikipedia.org]

    Missing: Syndactyly between Adjacent Toes

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