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2,335 Possible Causes for Craniosynostosis, 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] Craniosynostosis was noted in several of the earliest GCPS case reports, but we have observed this in very few patients.[ojrd.biomedcentral.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]

  • Craniosynostosis Type 3

    Etiology of Craniosynostosis The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances.[aafp.org] Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] "Types of Craniosynostosis". Craniosynostosis Surgery in South Texas. "What is Craniosynostosis?".[en.wikipedia.org]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Symptoms - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus The list of signs and symptoms mentioned in various sources for Craniosynostosis, sagittal[checkorphan.org] Semilobar holoprosencephaly. Severe Expression of the Genoa Syndrome?[dev.docslide.net] Ultrasound examination of the fetusconfirmed semilobar holoprosencephaly and craniosy-nostosis.[docslide.com.br]

    Missing: Syndactyly between Adjacent Toes
  • Isolated Trigonocephaly

    Common Syndromic Craniosynostosis like Apert and Crouzon have prevalence of about 1 in 65000, each about 4-6 per cent of all craniosynostosis.[childneurosurgeon.com] holoprosencephaly Cherubism Lobar holoprosencephaly Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus Microform holoprosencephaly Midline interhemispheric[csbg.cnb.csic.es] Median cleft lip, which accounts for about 0.5% of all cases of cleft lip, is usually associated with holoprosencephaly or the oral-facial-digital syndrome.[sonoworld.com]

    Missing: Syndactyly between Adjacent Toes
  • Familial Scaphocephaly Syndrome

    Craniosynostosis Causes Craniosynostosis is usually an isolated finding in an otherwise normal child. The precise causes vary and are incompletely understood.[chla.org] holoprosencephaly Lobar holoprosencephaly Microform holoprosencephaly Midline interhemispheric variant of holoprosencephaly Multiple synostoses syndrome Semilobar holoprosencephaly[csbg.cnb.csic.es] As an isolated abnormality there is no associated neurological deficit, but occasionally the hypotelorism may be associated with holoprosencephaly or other congenital abnormalities[skullbaseinstitute.com]

    Missing: Syndactyly between Adjacent Toes
  • Hypomandibular Faciocranial Dysostosis

    This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition.[ncbi.nlm.nih.gov] Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Synotia Muscular hypotonia Macrocephaly Pectus carinatum Full cheeks Acetabular dysplasia Femoral[mendelian.co] […] with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis[malacards.org]

    Missing: Syndactyly between Adjacent Toes
  • Alobar Holoprosencephaly

    We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping.[ncbi.nlm.nih.gov] We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis.[ncbi.nlm.nih.gov] We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly , microcephaly , and craniosynostosis.[journals.lww.com]

    Missing: Syndactyly between Adjacent Toes
  • Frontonasal Dysplasia

    Patients with craniofrontanasal dysplasia will need surgery to treat their craniosynostosis, if this condition is present.[hopkinsallchildrens.org] Alobar Holoprosencephaly Sequence, Anophthalmia, Preauricular Skin Tags, and Pulmonary Hypoplasia. A Previously Undescribed Condition.[medsci.org] Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Parietal Foramina with Cleidocranial Dysplasia

    More than 150 syndromes are associated with craniosynostosis.[plasticsurgerykey.com] Keywords: Cleft lip and palate, craniosynostosis, holoprosencephaly, hemifacial microsomia, Treacher Collins syndrome, cleidocranial dysplasia, parietal foramina, cherubism[eurekaselect.com] Keywords: Cleft lip and palate ; Treacher Collins syndrome ; cherubism ; cleidocranial dysplasia ; craniofacial development ; craniosynostosis ; hemifacial microsomia ; holoprosencephaly[ingentaconnect.com]

    Missing: Syndactyly between Adjacent Toes
  • Hypertelorism

    In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.[ncbi.nlm.nih.gov] He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata.[ncbi.nlm.nih.gov] Hypertelorism was mostly attributable to craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes

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