Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis.
| Attributes | Values |
|---|
| rdf:type
| |
| rdfs:label
| - Nager-Syndrom (de)
- Nager acrofacial dysostosis (en)
- Zespół Nagera (pl)
|
| rdfs:comment
| - Zespół Nagera (łac. syndroma Nager, ang. Nager syndrome, Nager acrofacial dysostosis, NAFD) – genetycznie uwarunkowana, dziedziczona autosomalnie dominująco choroba z grupy . Charakteryzuje się zaburzeniami rozwoju twarzoczaszki (hipoplazja łuków jarzmowych, mikrognacją, małymi i obróconymi ku tyłowi małżowinami usznymi) oraz brakiem kciuków, bez objawów niepełnosprawności intelektualnej. (pl)
- Das Nager-Syndrom ist ein sehr seltenes, zu den Akrofazialen Dysostosen gehöriges angeborenes Fehlbildungssyndrom mit den Hauptmerkmalen Gliedmaßen-Defekte an den Akren und Unterkiefer-betont im Gesicht (mandibulo-faziale Dystose). Synonyme sind: AFD1 Typ Nager; Dysostose, akrofaziale, Typ Nager; Akrodysostose, präaxiale; Dysostose, akrofaziale, Typ Nager; Mandibulofaziale Dysostose mit präaxialen Gliedmaßenanomalien; NAFD; Nager-(de)Reynier-Syndrom (de)
- Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis. (en)
|
| foaf:depiction
| |
| dcterms:subject
| |
| Wikipage page ID
| |
| Wikipage revision ID
| |
| Link from a Wikipage to another Wikipage
| |
| sameAs
| |
| dbp:wikiPageUsesTemplate
| |
| thumbnail
| |
| ICD
| |
| OMIM
| |
| Orphanet
| |
| caption
| - Nager acrofacial dysostosis is inherited in an autosomal dominant manner. (en)
|
| synonyms
| - Nager syndrome, mandibulofacial dysostosis with preaxial limb anomalies (en)
|
| has abstract
| - Das Nager-Syndrom ist ein sehr seltenes, zu den Akrofazialen Dysostosen gehöriges angeborenes Fehlbildungssyndrom mit den Hauptmerkmalen Gliedmaßen-Defekte an den Akren und Unterkiefer-betont im Gesicht (mandibulo-faziale Dystose). Synonyme sind: AFD1 Typ Nager; Dysostose, akrofaziale, Typ Nager; Akrodysostose, präaxiale; Dysostose, akrofaziale, Typ Nager; Mandibulofaziale Dysostose mit präaxialen Gliedmaßenanomalien; NAFD; Nager-(de)Reynier-Syndrom Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1948 durch den Schweizerischen HNO-Arzt Felix Robert Nager und den französischen Arzt Jean Pierre de Reynier (* 1914) (de)
- Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis. The inheritance pattern is autosomal, but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. Nager syndrome shares many characteristics with five other craniofacial syndromes: Miller, Treacher Collins, Pierre Robin, Genee–Wiedemann and Franceschetti–Zwahlen–Klein. (en)
- Zespół Nagera (łac. syndroma Nager, ang. Nager syndrome, Nager acrofacial dysostosis, NAFD) – genetycznie uwarunkowana, dziedziczona autosomalnie dominująco choroba z grupy . Charakteryzuje się zaburzeniami rozwoju twarzoczaszki (hipoplazja łuków jarzmowych, mikrognacją, małymi i obróconymi ku tyłowi małżowinami usznymi) oraz brakiem kciuków, bez objawów niepełnosprawności intelektualnej. (pl)
|
| MeSH
| |
| gold:hypernym
| |
| prov:wasDerivedFrom
| |
| page length (characters) of wiki page
| |
| ICD10
| |
| OMIM id
| |
| ORPHA
| |
| foaf:isPrimaryTopicOf
| |
| is Link from a Wikipage to another Wikipage
of | |
![[RDF Data]](/fct/images/sw-rdf-blue.png)
![[cxml]](/fct/images/cxml_doc.png)
![[csv]](/fct/images/csv_doc.png)
![[text]](/fct/images/ntriples_doc.png)
![[turtle]](/fct/images/n3turtle_doc.png)
![[ld+json]](/fct/images/jsonld_doc.png)
![[rdf+json]](/fct/images/json_doc.png)
![[rdf+xml]](/fct/images/xml_doc.png)
![[atom+xml]](/fct/images/atom_doc.png)
![[html]](/fct/images/html_doc.png)
