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1,522 Possible Causes for Holoprosencephaly, Prominent Cerebrospinal Fluid Spaces, 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]

  • 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] In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly.[ncbi.nlm.nih.gov]

    Missing: Prominent Cerebrospinal Fluid Spaces
  • Acquired Porencephaly

    holoprosencephaly  Semilobar holoprosencephaly  Lobar holoprosencephaly 20.  Alobar holoprosencephaly: there is a complete absence of midline forebrain division, resulting[slideshare.net] […] cortical sulci and dilated extra-axial cerebrospinal fluid spaces.[ijcasereportsandimages.com] […] months IR 375 Myelination at 18 months SE 376 Myelination at 2 years IR 378 186ab Congenital malformation Myelination in accordance with age 380 187a Microcephaly partial holoprosencephaly[books.google.com]

    Missing: Syndactyly between Adjacent Toes
  • Mega-Cisterna Magna

    ., PALMER CG — The face predicts the brain : diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). ‎[books.google.ro] Cytomegalovirus) chromosomal abnormalities (e.g. trisomy 18) Radiographic features on CT Typically seen as prominent retrocerebellar cerebrospinal fluid (CSF) appearing space[medicalopedia.org] ., PALMER CG — The face predicts the brain : diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). ‏[books.google.com]

    Missing: Syndactyly between Adjacent Toes
  • Autosomal Recessive Primary Microcephaly Type 10

    Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white[mendelian.co] […] inversus syndrome Aicardi syndrome Aicardi-Goutières syndrome Albers-Schönberg osteopetrosis Albright hereditary osteodystrophy Allan-Herndon-Dudley syndrome Alobar holoprosencephaly[se-atlas.de] 7 PTCH1 Holoprosencephaly 9 GLI2 Hydrocephalus SIN3A Hyperemia ADA Hypereosinophilic Syndrome PDGFRA Hyperinsulinism NOS3 Hypercholesterolemia, Familial APOB Hyperplasia[selfdecode.com]

    Missing: Syndactyly between Adjacent Toes
  • 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]

    Missing: Prominent Cerebrospinal Fluid Spaces Syndactyly between Adjacent Toes
  • Commissural Facial Cleft

    In the most severe forms of alobar holoprosencephaly, this angle is as big as 122  55 .[kundoc.com] Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[medsci.org] Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES. Telencephalic Commissures Set of nerve fibers that cross the midline of the TELENCEPHALON.[bioportfolio.com]

    Missing: Syndactyly between Adjacent Toes
  • Central Nervous System Cyst

    Lai TH, Chang CH, Yu CH et al (2000) Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound.[link.springer.com] […] collections and prominence of the subarachnoid spaces.[pediatrics.aappublications.org] Prognosis: Alobar and semilobar holoprosencephaly are lethal.[sonoworld.com]

    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] Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly.[link.springer.com] Holoprosencephaly: defects of the mediobasal prosencephalon.[jmg.bmj.com]

    Missing: Prominent Cerebrospinal Fluid Spaces Syndactyly between Adjacent Toes
  • 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]

    Missing: Prominent Cerebrospinal Fluid Spaces Syndactyly between Adjacent Toes