Create issue ticket

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.[] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[] Hematologic disorders Congenital hemolytic icterus Polycythemia vera Sickle cell anemia Thalassemia Iatrogenic disorders Hydrocephalus with shunt Malformations Encephalocele Holoprosencephaly[]

  • 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[] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[] In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly.[]

    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[] […] cortical sulci and dilated extra-axial cerebrospinal fluid spaces.[] […] 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[]

    Missing: Syndactyly between Adjacent Toes
  • Mega-Cisterna Magna

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

    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[] […] inversus syndrome Aicardi syndrome Aicardi-Goutières syndrome Albers-Schönberg osteopetrosis Albright hereditary osteodystrophy Allan-Herndon-Dudley syndrome Alobar holoprosencephaly[] 7 PTCH1 Holoprosencephaly 9 GLI2 Hydrocephalus SIN3A Hyperemia ADA Hypereosinophilic Syndrome PDGFRA Hyperinsulinism NOS3 Hypercholesterolemia, Familial APOB Hyperplasia[]

    Missing: Syndactyly between Adjacent Toes
  • Patau Syndrome

    Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[] Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and[] 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[]

    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 .[] Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[] Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES. Telencephalic Commissures Set of nerve fibers that cross the midline of the TELENCEPHALON.[]

    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.[] […] collections and prominence of the subarachnoid spaces.[] Prognosis: Alobar and semilobar holoprosencephaly are lethal.[]

    Missing: Syndactyly between Adjacent Toes
  • Aprosencephaly and Cerebellar Dysgenesis

    […] and a stillborn female infant with a lumbar meningocele, cebocephaly, and alobar holoprosencephaly (4, 5).[] Greene MF, Banacerraf BR, Frigoletto FD Jr (1987) Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly.[] Holoprosencephaly: defects of the mediobasal prosencephalon.[]

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

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

    Missing: Prominent Cerebrospinal Fluid Spaces Syndactyly between Adjacent Toes