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3,533 Possible Causes for Cleft Palate, Holoprosencephaly, Syndactyly between Adjacent Toes

  • Craniosynostosis Type 3

    […] lip/cleft palate and other lip and palatal anomalies, bifid uvula, choanal atresia, macrotia with lateral facial cleft, craniosynostosis, frontal bossing, frontal encephalocele[bredagenetics.com] 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]

  • Patau Syndrome

    […] lip, and cleft palate.[learningaboutelectronics.com] Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[revistas.usp.br] 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
  • 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] palate and other irregularities of the palate, cleft larynx or epiglottis, cysts on the gums, and ears that are small, low-set, and abnormally rotated toward the back of[checkorphan.org] 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]

  • Alobar Holoprosencephaly

    We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly, microphthalmia, cebocephalus, choanal atresia, pseudo cleft palate[ncbi.nlm.nih.gov] Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.[ncbi.nlm.nih.gov] We report on a female still-birth with cebocephaly, alobar holoprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Chromosome 18p Deletion Syndrome

    palate * Delayed tooth eruption * Down-turned corners of mouth * Drooping eyelids * Drooping upper eyelid * Epicanthal folds * Epicanthal folds * Glaucoma * Graves disease[checkorphan.org] 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] 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
  • Partial Trisomy 13 in Patau Syndrome

    Some of the characteristics of Edward syndrome may include: defects of the kidneys, ureters, heart, lungs and diaphragm cleft lip or cleft palate small skull (microcephaly[betterhealth.vic.gov.au] Key Words: Autopsy ; Trisomy ; Holoprosencephaly ; Karyotyping[jpatholtm.org] Pseudotrisomy 13 syndrome, or holoprosencephaly-polydactyly syndrome, is an autosomal recessive condition with characteristics similar to trisomy 13, including holoprosencephaly[clinicaladvisor.com]

    Missing: Syndactyly between Adjacent Toes
  • Meckel Syndrome

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS).[ncbi.nlm.nih.gov] Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly[ncbi.nlm.nih.gov] Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Cleft Lip

    Congenital fissure of the soft and/or hard palate, due to faulty fusion. 749 Cleft palate and cleft lip 749.0 Cleft palate 749.00 Cleft palate, unspecified convert 749.00[icd9data.com] We report on a fetus with alobar holoprosencephaly, complete cleft lip and palate, urorectal septum malformation sequence and perineal hernia.[ncbi.nlm.nih.gov] However, children with holoprosencephaly present a unique challenge.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Frontonasal Dysplasia

    The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate[ncbi.nlm.nih.gov] Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[medsci.org] Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Epignathus

    When treating epignathus with cleft palate, it is particularly important to consider velopharyngeal function and maxillary growth after surgical repair.[ncbi.nlm.nih.gov] We present a case of epignathus detected prenatally in an oligohydramniotic 24 week fetus in which anophthalmia, a single nostril, holoprosencephaly, meromelia, bilateral[ncbi.nlm.nih.gov] We present a case of epignathus detected prenataliy in an oligohydramniotic 24 week fetus in which anophthalmia, a single nostril, holoprosencephaly. meromelia, bilateral[insights.ovid.com]

    Missing: Syndactyly between Adjacent Toes

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