- Axenfeld syndrome
Infobox_Disease
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DiseasesDB = 30800
ICD10 =
ICD9 = ICD9|743.44
ICDO =
OMIM =
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MeshID =Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is the name given to an
autosomal dominant [cite journal |pmid=17167399 |year=2006 |month=Dec |author=Vieira, V; David, G; Roche, O; De, La, Houssaye, G; Boutboul, S; Arbogast, L; Kobetz, A; Orssaud, C; Camand, O; Schorderet, Df; Munier, F; Rossi, A; Delezoide, Al; Marsac, C; Ricquier, D; Dufier, Jl; Menasche, M; Abitbol, M |title=Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome |volume=12 |issue= |pages=1448–60 |issn= |journal=Molecular vision |url=http://www.molvis.org/molvis/v12/a163/ |format=Free full text]eye disorder, which also may present with otherdevelopmental disorders .Eponym
It is named after the German
ophthalmologist Theodor Axenfeld . [WhoNamedIt|synd|1284] cite journal |author=Axenfeld T |title=Embryotoxon cornea posterius |journal=Berichte der Deutschen ophthalmologischen Gesellschaft |year=1920 |volume=42 |pages=301]The term "Rieger syndrome" is sometimes used to indicate an association with
glaucoma .cite web |url=http://www.emedicine.com/oph/topic141.htm |title=eMedicine - Glaucoma, Secondary Congenital : Article by Inci Irak-Dersu |accessdate=2008-03-24 |format= |work=]Diagnosis
Although most recognized for its correlation with the onset of
glaucoma , the malformation is not limited to the eye, as Axenfeld syndrome when associated with thePITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system.cite journal |pmid=18331556 |year=2008 |month=Mar |author=Meyer-Marcotty, P; Weisschuh, N; Dressler, P; Hartmann, J; Stellzig-Eisenhauer, A |title=Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation |volume= |issue= |pages= |doi=10.1111/j.1600-0714.2008.00650.x |journal=Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology |doi_brokendate=2008-08-28]The most characteristic feature affecting the eye is a distinct corneal posterior arcuate ring, known as an "embryotoxon". The iris is commonly adherent to the
Schwalbe's line (posterior surface of the cornea).Pathophysiology
The
molecular genetics of Axenfeld syndrome are poorly understood, and centers on two genes identified by cloning ofchromosomal beakpoints from patients.This disorder is inheritable as an
autosomal dominant trait, which means the defective gene is located on anautosome , and only one copy of the gene is sufficient to cause the disorder when inherited from a parent who has the disorder.ee also
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PITX2
*Forkhead box C1 References
External Links
*RareDiseases|10281|Axenfeld Rieger syndrome
*RareDiseases|9186|Axenfeld Rieger anomaly with cardiac defects and sensorineural hearing loss OMIM3|602482
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