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1,226 Possible Causes for Holoprosencephaly

  • Patau Syndrome

    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] Holoprosencephaly (resulting from a defect in the division of the brain into two hemispheres) is present in 70% of cases and can be observed as variable degrees of hemisphere[orpha.net]

  • Pallister-Hall Syndrome

    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] In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly.[ncbi.nlm.nih.gov] […] subluxation postaxial polydactyly oligodactyly short 4th metacarpals syndactyly postaxial polydactyly midline facial capillary hemangioma nail dysplasia cerebral anomalies holoprosencephaly[humpath.com]

  • Cyclopia

    These findings are characteristic of alobar holoprosencephaly.[ncbi.nlm.nih.gov] In alobar holoprosencephaly there is limited formation of the anterior portion of the brain.[appliedradiology.com] We report on the ultrasound (US) detection of holoprosencephaly with cyclopia at a gestational age of 16 weeks.[ncbi.nlm.nih.gov]

  • Alobar Holoprosencephaly

    Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly.[ncbi.nlm.nih.gov] The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism[ncbi.nlm.nih.gov] Because of the poor prognosis of alobar holoprosencephaly, early prenatal diagnosis is recommended.[ncbi.nlm.nih.gov]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] and a stillborn female infant with a lumbar meningocele, cebocephaly, and alobar holoprosencephaly (4, 5).[ajnr.org] Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly.[link.springer.com] Classic alobar holoprosencephaly is characterized by absence of midline cleavage leading to contiguous frontal lobes, fused thalami and basal ganglia, and an underlying mono[jaocr.org]

  • Partial Trisomy 13 in Patau Syndrome

    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] Six fingers in a baby with Patau syndrome 37-week gestational age male with Patau syndrome demonstrating alobar holoprosencephaly with cyclopia.[en.wikipedia.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] MalaCards based summary : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to 18p deletion syndrome and alobar holoprosencephaly.[malacards.org] holoprosencephaly, single nostril as present in our case. [1], [4] The severity of holoprosencephaly varies from cyclopy to facial malformations with a central incisor.[jisppd.com]

  • Arhinencephaly

    Chih-Ping Chen, Tsung-Hsien Su, Schu-Rern Chern, Jun-Wei Su, Chen-Chi Lee and Wayseen Wang, Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of[doi.org] Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: report of patient with 46 chromosomes. Neurology 13: 913-918, 1963.[en.atlaseclamc.org] Of the case infants with non-syndromic holoprosencephaly, 55% had malformations not attributable to the underlying brain defect.[ncbi.nlm.nih.gov]

  • Acalvaria

    An estimated 85-day-old human fetus exhibited a malformation complex consisting of holoprosencephaly, absent calvaria, exophthalmic hypertelorism, and severe bilateral midfacial[ncbi.nlm.nih.gov] holoprosencephaly - Fabrice Cuillier, L Vinatier.[sonoworld.com] The brain in one fetus demonstrated semilobar holoprosencephaly and micropolygyria, but in the other, was structurally and histologically normal with the exception of hydrocephalus[ncbi.nlm.nih.gov]

  • Isolated Arhinencephaly

    Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound.[ncbi.nlm.nih.gov] Alobar holoprosencephaly: report of two cases with unusual findings. Chang Gung Med J. 2003 Sep. 26(9):700-6. [Medline].[emedicine.medscape.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]

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