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1,881 Possible Causes for Holoprosencephaly, Intestinal Malrotation, Syndactyly between Adjacent Toes

  • Patau Syndrome

    : Dysfunction of the rotation of the intestine during the embryological development Hyperplasia of the biliary tracts Malformations of the genito-urinary tract Hypospadia[] Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[] […] ears, cleft lip or palate, microphthalmia or coloboma, small mandible, polydactyly, cardiac defects, convulsions, renal anomalies, umbilical hernia, malrotation of intestines[]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    malrotation - cardiopathy Cleft palate CLIPPERS CLN1 disease CLN2 disease CLN3 disease CLN6 disease CLN7 disease CLTC-Related Disorder Coats disease Cockayne syndrome Cockayne[] 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[]

  • 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[] malrotation Genitourinary 14-44% hypospadias, kidney malformations, inguinal hernia Cardiac 16-33% aortic coarctation, transposition of the great vessels, patent ductus arteriosus[] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[]

  • Cardiac Anomalies-Heterotaxy Syndrome

    Intestinal malrotation with midgut volvulus may also be a presenting feature. Bronchial anatomy as a key Bronchial anatomy accurately reflects atrial situs.[] ., PALMER CG — The face predicts the brain : diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). ‎[] Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8.[]

    Missing: Syndactyly between Adjacent Toes
  • Duodenal Stenosis

    Intra-operatively we find an annular pancreas and treated it by duodeno-duodenostomy, while the intestinal malrotation was treated by Ladd’s procedure.[] Investigations showed alobar holoprosencephaly, absence of the third ventricle and midline structures of the brain, microphthalmia, hypotelorism, left ventricular hypoplasia[] malrotation.[]

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

    malrotation * Septal defects Causes - Chromosome 18p deletion syndrome * Amenorrhea * Cataracts * Cleft palate * Delayed tooth eruption * Down-turned corners of mouth * Drooping[] 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[] malrotation (twisting) Hirschsprung's disease Diaphragmatic hernia Inguinal and umbilical hernia Immune system problems Recurring ear infections, especially when a child[]

    Missing: Syndactyly between Adjacent Toes
  • Meckel Syndrome

    Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted.[] Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly[] In conclusion, intestinal malrotation and hepatic portal fibrosis have been reported in MGS in the literature.[]

    Missing: Syndactyly between Adjacent Toes
  • Aprosencephaly and Cerebellar Dysgenesis

    Megacolon ; 27.6 Malrotation of Intestines ; 27.7 Duplications and Cysts of Intestine ; 27.8 Meckel Diverticulum ; Chapter 28 Rectum/Anus ; Cathy A.[] […] 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.[]

    Missing: Syndactyly between Adjacent Toes
  • Juvenile Polyposis Syndrome

    Associations Other congenital abnormalities are present in 20% of patients 1,2 : intestinal malrotation Meckel diverticulum hydrocephalus congenital heart disease mesenteric[] Holoprosencephaly Overview Benjamin D Solomon, Andrea Gropman, and Maximilian Muenke. Initial Posting: December 27, 2000; Last Update: August 29, 2013.[] These include: Intestinal malrotation Anomalies of the heart brain genitourinary tract Cleft palate Having more fingers than normal Types of JPS Juvenile polyposis of infancy[]

    Missing: Syndactyly between Adjacent Toes
  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Title Other Names: Hydrocephalus with associated malformations; Retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot[] […] type 2 SIX3 Holoprosencephaly type 3 SHH Holoprosencephaly type 4 TGIF1 Holoprosencephaly type 5 ZIC2 Holoprosencephaly type 11 CDON Holoprosencephaly-type 9 GLI2 Holt-Oram[] : Holoprosencephaly, Macro, autopsy (72104) Holoprosencephaly, Macro, autopsy (72059) Holoprosencephaly: Holoprosencephaly, Macro, autopsy (73293) Holoprosencephaly, Macro[]

    Missing: Syndactyly between Adjacent Toes

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