Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Apert_syndrome> ?p ?o }
- Apert_syndrome abstract "Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics. Linguistically, "acro" is Greek for "peak", referring to the "peaked" head that is common in the syndrome. "Cephalo", also from Greek, is a combining form meaning "head". "Syndactyly" refers to webbing of fingers and toes.In embryology, the hands and feet have selective cells that die, called selective cell death or apoptosis, causing separation of the digits. In the case of acrocephalosyndactyly, selective cell death does not occur and skin, and rarely bone, between the fingers and toes fuses.The cranial bones are affected as well, similar to Crouzon syndrome and Pfeiffer syndrome. Craniosynostosis occurs when the fetal skull and facial bones fuse too soon in utero, disrupting normal bone growth. Fusion of different sutures leads to different patterns of growth on the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture and lambdoid suture bilaterally), dolichocephaly (fusion of the sagittal suture), plagiocephaly (fusion of coronal and lambdoidal sutures unilaterally), and oxycephaly or turricephaly (fusion of coronal and lambdoid sutures).Findings for the incidence of the syndrome in the population have varied, with estimates as low as 1 birth in 200,000 provided and 160,000 given as an average by older studies. A study conducted in 1997, however, by the California Birth Defects Monitoring Program, found an incidence rate of 1 in 80,645 out of almost 2.5 million live births. Another study conducted in 2002 by the Craniofacial Center, North Texas Hospital For Children, found a higher incidence of about 1 in 65,000 live births.".
- Apert_syndrome icd10 "Q87.0".
- Apert_syndrome icd9 "755.55".
- Apert_syndrome meshId "D000168".
- Apert_syndrome omim "101200".
- Apert_syndrome thumbnail Patient_with_Apert_syndrome.jpg?width=300.
- Apert_syndrome wikiPageExternalLink apert.htm.
- Apert_syndrome wikiPageExternalLink www.cleftadvocate.org.
- Apert_syndrome wikiPageExternalLink Apert.htm.
- Apert_syndrome wikiPageExternalLink art.asp?articlekey=6574.
- Apert_syndrome wikiPageExternalLink br.fcgi?book=gene&part=craniosynostosis.
- Apert_syndrome wikiPageExternalLink apert-syndrome.
- Apert_syndrome wikiPageID "1514889".
- Apert_syndrome wikiPageLength "18779".
- Apert_syndrome wikiPageOutDegree "56".
- Apert_syndrome wikiPageRevisionID "673027081".
- Apert_syndrome wikiPageWikiLink Acrocephalosyndactylia.
- Apert_syndrome wikiPageWikiLink Acrocephalosyndactyly.
- Apert_syndrome wikiPageWikiLink Apoptosis.
- Apert_syndrome wikiPageWikiLink Autosomal_dominant.
- Apert_syndrome wikiPageWikiLink Brachycephaly.
- Apert_syndrome wikiPageWikiLink Branchial_arch.
- Apert_syndrome wikiPageWikiLink Category:Cell_surface_receptor_deficiencies.
- Apert_syndrome wikiPageWikiLink Category:Congenital_oral_disorders.
- Apert_syndrome wikiPageWikiLink Category:Genodermatoses.
- Apert_syndrome wikiPageWikiLink Category:Rare_diseases.
- Apert_syndrome wikiPageWikiLink Category:Syndromes.
- Apert_syndrome wikiPageWikiLink Chromosome_10.
- Apert_syndrome wikiPageWikiLink Chromosome_10_(human).
- Apert_syndrome wikiPageWikiLink Clinodactyly.
- Apert_syndrome wikiPageWikiLink Congenital_disorder.
- Apert_syndrome wikiPageWikiLink Coronal_suture.
- Apert_syndrome wikiPageWikiLink Coronal_sutures.
- Apert_syndrome wikiPageWikiLink Craniosynostosis.
- Apert_syndrome wikiPageWikiLink Crouzon_syndrome.
- Apert_syndrome wikiPageWikiLink Diaphysis.
- Apert_syndrome wikiPageWikiLink Distraction_osteogenesis.
- Apert_syndrome wikiPageWikiLink Dolichocephaly.
- Apert_syndrome wikiPageWikiLink Dominance_(genetics).
- Apert_syndrome wikiPageWikiLink Embryology.
- Apert_syndrome wikiPageWikiLink Eugène_Apert.
- Apert_syndrome wikiPageWikiLink FGFR2.
- Apert_syndrome wikiPageWikiLink Fibroblast_growth_factor_receptor_2.
- Apert_syndrome wikiPageWikiLink Frontal_suture.
- Apert_syndrome wikiPageWikiLink Gene.
- Apert_syndrome wikiPageWikiLink Genome.
- Apert_syndrome wikiPageWikiLink Hearing_loss_with_craniofacial_syndromes.
- Apert_syndrome wikiPageWikiLink Human_mandible.
- Apert_syndrome wikiPageWikiLink In_utero.
- Apert_syndrome wikiPageWikiLink Isoforms.
- Apert_syndrome wikiPageWikiLink Lambdoid_suture.
- Apert_syndrome wikiPageWikiLink Lambdoidal_suture.
- Apert_syndrome wikiPageWikiLink LeFort_III.
- Apert_syndrome wikiPageWikiLink Maxilla.
- Apert_syndrome wikiPageWikiLink Mesenchyme.
- Apert_syndrome wikiPageWikiLink Metaphysis.
- Apert_syndrome wikiPageWikiLink Metopic_suture.
- Apert_syndrome wikiPageWikiLink Omphalocele.
- Apert_syndrome wikiPageWikiLink Osteoblast.
- Apert_syndrome wikiPageWikiLink Osteoblasts.
- Apert_syndrome wikiPageWikiLink Pfeiffer_syndrome.
- Apert_syndrome wikiPageWikiLink Plagiocephaly.
- Apert_syndrome wikiPageWikiLink Point_mutation.
- Apert_syndrome wikiPageWikiLink Point_mutations.
- Apert_syndrome wikiPageWikiLink Prognathism.
- Apert_syndrome wikiPageWikiLink Protein_isoform.
- Apert_syndrome wikiPageWikiLink Pseudomandibular_prognathism.
- Apert_syndrome wikiPageWikiLink Saethre-Chotzen_syndrome.
- Apert_syndrome wikiPageWikiLink Saethre–Chotzen_syndrome.
- Apert_syndrome wikiPageWikiLink Sagittal_suture.
- Apert_syndrome wikiPageWikiLink Suture_(anatomical).
- Apert_syndrome wikiPageWikiLink Suture_(anatomy).
- Apert_syndrome wikiPageWikiLink Symbrachyphalangism.
- Apert_syndrome wikiPageWikiLink Syndactyly.
- Apert_syndrome wikiPageWikiLink Trigonocephaly.
- Apert_syndrome wikiPageWikiLinkText ":Apert syndrome".
- Apert_syndrome wikiPageWikiLinkText "Apert syndrome".
- Apert_syndrome wikiPageWikiLinkText "acrocephaly".
- Apert_syndrome caption "A child with Apert syndrome".
- Apert_syndrome diseasesdb "33968".
- Apert_syndrome emedicinesubj "ped".
- Apert_syndrome emedicinetopic "122".
- Apert_syndrome hasPhotoCollection Apert_syndrome.
- Apert_syndrome icd "755.55".
- Apert_syndrome icd "Q87.0".
- Apert_syndrome medlineplus "1581".
- Apert_syndrome meshid "D000168".
- Apert_syndrome name "Apert syndrome".
- Apert_syndrome omim "101200".
- Apert_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Apert_syndrome wikiPageUsesTemplate Template:Phakomatoses_and_other_congenital_malformations_not_elsewhere_classified.
- Apert_syndrome wikiPageUsesTemplate Template:Receptor_deficiencies.
- Apert_syndrome wikiPageUsesTemplate Template:Reflist.
- Apert_syndrome wikiPageUsesTemplate Template:Use_dmy_dates.
- Apert_syndrome subject Category:Cell_surface_receptor_deficiencies.
- Apert_syndrome subject Category:Congenital_oral_disorders.
- Apert_syndrome subject Category:Genodermatoses.
- Apert_syndrome subject Category:Rare_diseases.
- Apert_syndrome subject Category:Syndromes.
- Apert_syndrome hypernym Form.