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Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities.

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rdf:type
rdfs:label
  • Ablepharon-Makrostomie-Syndrom
  • Ablepharon macrostomia syndrome
  • Síndrome de abléfaron-macrostomía
  • Syndrome ablépharie-macrostomie
rdfs:comment
  • Das Ablepharon-Makrostomie-Syndrom (AMS) ist ein angeborenes, sehr seltenes, stark entstellendes Syndrom mit Fehlen der Augenlider, Augenbrauen, Wimpern und Fehlbildungen an Ohren, Mundhöhle und Genitale. Die Erstbeschreibung stammt von den britischen Ärzten Gillian McCarthy und Carolyn West aus dem Jahre 1977.
  • Le syndrome ablépharie-macrostomie appelé également syndrome AMS est une maladie rare correspond à l'association de plusieurs symptômes.
  • Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities.
  • El síndrome de abléfaron-macrostomia es una enfermedad hereditaria que se presenta con muy poca frecuencia, por lo cual se incluye dentro del grupo de las enfermedades raras. Se cree que se hereda según un patrón autosómico recesivo. La primera descripción fue realizada por McCarthy, G. T. y West, C. M. en el año 1977. Los niños afectados presentan diversas anomalías que afectan sobre todo a cabeza y cara, piel, órganos genitales y dedos, en ocasiones existe deficiencia mental y retraso en el desarrollo del lenguaje.
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  • Ablepharon macrostomia syndrome
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  • Ablepharon macrostomia syndrome
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  • Ablepharon macrostomia syndrome has an autosomal dominant mode of inheritance.
has abstract
  • El síndrome de abléfaron-macrostomia es una enfermedad hereditaria que se presenta con muy poca frecuencia, por lo cual se incluye dentro del grupo de las enfermedades raras. Se cree que se hereda según un patrón autosómico recesivo. La primera descripción fue realizada por McCarthy, G. T. y West, C. M. en el año 1977. Los niños afectados presentan diversas anomalías que afectan sobre todo a cabeza y cara, piel, órganos genitales y dedos, en ocasiones existe deficiencia mental y retraso en el desarrollo del lenguaje. En la cara, los parpados están ausentes o poco desarrollados (ablefaria), no existen pestañas ni cejas, la boca es muy grande (macrostomia) y las orejas son anómalas y pequeñas. La piel es delgada y presenta arrugas y repliegues anormales, también existen anomalías dentales que pueden ser muy marcadas. El tratamiento se basa en medidas de rehabilitación y cirugía plástica para la reconstrucción de los parpados.​​
  • Das Ablepharon-Makrostomie-Syndrom (AMS) ist ein angeborenes, sehr seltenes, stark entstellendes Syndrom mit Fehlen der Augenlider, Augenbrauen, Wimpern und Fehlbildungen an Ohren, Mundhöhle und Genitale. Die Erstbeschreibung stammt von den britischen Ärzten Gillian McCarthy und Carolyn West aus dem Jahre 1977.
  • Le syndrome ablépharie-macrostomie appelé également syndrome AMS est une maladie rare correspond à l'association de plusieurs symptômes.
  • Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities. AMS is caused by mutations in the TWIST2 gene, among others. It is closely related to Barber–Say syndrome in terms of phenotypic abnormalities.
DiseasesDB
ICD
  • GroupMajor.minor
OMIM
DiseasesDB
  • 33818
ICD10
  • GroupMajor.minor
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