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1,924 Possible Causes for Dysmorphic Face, Holoprosencephaly, 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] In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly.[ncbi.nlm.nih.gov]

  • 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: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] It can include: long narrow face with facial dysmorphisms, congenital cataract, blepharophimosis, dental anomalies, syndactyly, cardiopathy, cleft palate, renal and genital[bredagenetics.com] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz]

  • 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] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

    Missing: Syndactyly between Adjacent Toes
  • Seckel Syndrome

    We present a case of Seckel syndrome with semilobar holoprosencephaly as associated CNS anomaly, which to the best of our knowledge has not been reported earlier.[ncbi.nlm.nih.gov] face (bird-like), and mild to severe intellectual disability.[orpha.net] A case of Seckel syndrome (SS) accompanied by semilobar holoprosencephaly and arthrogryposis is reported from Erciyes University, Kayseri, Turkey.[pediatricneurologybriefs.com]

    Missing: Syndactyly between Adjacent Toes
  • Trisomy 18

    Transabdominal ultrasound examination carried out at 11.3 weeks' gestation suggested the diagnosis of holoprosencephaly (HPE).[ncbi.nlm.nih.gov] The body structure details of the dead fetus could not be identified, whereas holoprosencephaly and omphalocele were identified in the living fetus on prenatal ultrasound.[ncbi.nlm.nih.gov] Less frequently, cleft/lip palate, arthrogryposis, radial aplasia, spina bifida and anencephaly, holoprosencephaly and omphalocele are observed.[web.archive.org]

    Missing: Syndactyly between Adjacent Toes
  • Trisomy 9

    We report a case of mosaic trisomy 9 with holoprosencephaly (HPE).[ncbi.nlm.nih.gov] The second fetus showed a dysmorphic face, bilateral cleft lip, hypoplastic corpus callosum, and a Dandy-Walker malformation.[ncbi.nlm.nih.gov] 2003 19 Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review. ( 14563095 ) Stipoljev F....Kurjak A. 2003 20 Mosaic trisomy 9 and lobar holoprosencephaly[malacards.org]

    Missing: Syndactyly between Adjacent Toes
  • Thanatophoric Dysplasia

    Finally, to analyze the mechanisms of holoprosencephaly observed in the case described here, we include a concise review on the current understanding of how FGFs and their[ncbi.nlm.nih.gov] Physical examination revealed a large head with a prominent forehead in a cloverleaf shape, a dysmorphic face with a flat nose and very small extremities ( Figure 2 ).[omicsonline.org] Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: insights into its pathogenesis. Am J Med Genet A. 2011 Jan;155A(1):197-202.[msjonline.org]

    Missing: Syndactyly between Adjacent Toes
  • Pallister W 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] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[findzebra.com] Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8.[humangenetik-regensburg.de]

    Missing: Syndactyly between Adjacent Toes
  • Pierre Robin Syndrome

    MRI or CT scans of the head may reveal a holoprosencephaly or other brain related problems (Rosa et al. 2011 ).[doi.org] Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[emedicine.medscape.com] "Holoprosencephaly and hypognathia with two proboscides: report of a case and review of unusual proboscides".[en.wikipedia.org]

    Missing: Syndactyly between Adjacent Toes