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2,461 Possible Causes for Holoprosencephaly, Polydactyly, 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] 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] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov]

  • Patau Syndrome

    Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[revistas.usp.br] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] 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
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] Polydactyly has been documented.[bredagenetics.com] ., holoprosencephaly, microcephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g., valproic acid, phenytoin) Mucopolysaccharidosis (e.g., Hurler’s syndrome[aafp.org]

  • Meckel Syndrome

    Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly[ncbi.nlm.nih.gov] Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion.[ncbi.nlm.nih.gov] Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Partial Trisomy 13 in Patau Syndrome

    Key Words: Autopsy ; Trisomy ; Holoprosencephaly ; Karyotyping[jpatholtm.org] The absence of polydactyly, hernias, urogenital abnormalities, and haemangiomas contrast this condition with both trisomy 13 and duplication of 13q14-22-- qter.[ncbi.nlm.nih.gov] (60%), microcephaly, microphthalmia, cleft lip/palate, postaxial polydactyly (60%), omphalocele, heart defects, and renal anomalies.[clinicaladvisor.com]

    Missing: Syndactyly between Adjacent Toes
  • Kleiner Holmes Syndrome

    Definition : A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[reference.md] Cytogenetic and Genome Research 149(3): 171-175, 2016 Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1 .[eurekamag.com] […] digit polydactyly; and type 5, polysyndactyly ( 4 , 8 , 11 ).[musculoskeletalkey.com]

  • 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] One of our cases had a clinical picture similar to that of holoprosencephaly-polydactyly syndrome. The other had the rare anatomical finding of a polylobuated spleen.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Frontonasal Dysplasia

    Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[medsci.org] This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid,[ncbi.nlm.nih.gov] […] superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Cenani Syndactylism

    Definition : A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[reference.md] , Microphthalmia with coloboma SIX3 Holoprosencephaly TGIF1 Holoprosencephaly ZIC2 Holoprosencephaly ACTB Baraitser-Winter syndrome ACTG1 Baraitser-Winter syndrome, Deafness[genda.com.ar] Novick, Car***"Polydactyly of the Foot." eMedicin***www.emedicing.com "Polydactyly." Health Library. www.mercksource.com "Polydactyly and Syndactyly."[psychology.wikia.com]

  • Smith Lemli Opitz Syndrome

    The diagnosis of alobar holoprosencephaly was confirmed at 15 weeks of gestation, and cardiac and limb defects were also identified.[ncbi.nlm.nih.gov] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia).[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes

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