One polymorphism (Ala253Val) was identified in the GJA1 gene in the same family presenting the Trp152STOP mutation in the FOXC1 gene. [ncbi.nlm.nih.gov]

• Regurgitation

  Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. [ncbi.nlm.nih.gov]

  Progressive moderate mitral regurgitation in a children with Axenfeld-Rieger syndrome. The importance of cardiologic follow up. Arch Argent Pediatr 2016;114:e417–20. [19]. Gripp KW, Hopkins E, Jenny K, et al. [journals.lww.com]

• Short Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. [rarediseases.org]

• Hirsutism

  The patient had atrial septal defect, sensorineural hearing loss, polycystic ovaries, hirsutism, glomerulosclerosis, dental anomalies, and low intelligence. [ncbi.nlm.nih.gov]

• Blurred Vision

  Case 1 A 56 year-old female (mother) had blurred vision complaints. Her best visual acuity was 20/25 in the right eye and 20/50 in the left eye. [scielo.br]

  The patient may complain of eyestrain, dry red eyes, headaches, transient blurred vision or diplopia, as well as neckache or backache. [medical-dictionary.thefreedictionary.com]

  This patient also had a younger sister of 5-year-old, who also suffered from blurred vision and had developmental anomalies in maxillary anterior teeth. 3 Discussion ARS was first described by German ophthalmologist Theodor Axenfeld in 1920 as featured [journals.lww.com]

  This patient also had a younger sister of 5-year-old, who also suffered from blurred vision and had developmental anomalies in maxillary anterior teeth. 3.  [ncbi.nlm.nih.gov]

Further workup confined the presence of glaucoma in both of her eyes. Slit lamp examination revealed a prominent Schwalbe's line in all quadrants of both the eyes. There was no anomaly of the lens or fundus. A diagnosis of ARS was made. [aeronline.org]

Endoscopic workup was performed in all patients. Gastrointestinal symptoms were mild or absent even in five patients, in which TW could be detected in small intestinal biopsies. [ojrd.biomedcentral.com]

The treatment of two patients with various anomalies in Axenfeld-Rieger syndrome is described and discussed. [ncbi.nlm.nih.gov]

What are the available treatment options? Treatment and clinical care is individualized to the patient. The most important symptom that necessitates treatment in ARS is glaucoma. [mokymai.kaunoklinikos.lt]

Treatment - Axenfeld-Rieger syndrome The treatment of Rieger syndrome is symptomatic and supportive and prostheses are used for dental malformations. Also, Genetic counseling may be of benefit for patients and their families. [checkorphan.org]

This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome. [ncbi.nlm.nih.gov]

Diagnosis - Axenfeld-Rieger syndrome Prognosis - Axenfeld-Rieger syndrome Not supplied. Treatment - Axenfeld-Rieger syndrome The treatment of Rieger syndrome is symptomatic and supportive and prostheses are used for dental malformations. [checkorphan.org]

Prognosis Prognosis is good, particularly in the absence of glaucoma. The documents contained in this web site are presented for information purposes only. [orpha.net]

Phenotypes of an ARA pedigree after surgery showing varying prognosis. [iovs.arvojournals.org]

Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]

Its mode of action in the pathogenesis of RIEG was not conclusively proven, since most etiological mutations detected in the RIEG sequence caused amino acid substitutions or splice changes in the homeodomain. [ncbi.nlm.nih.gov]

Summary Epidemiology The syndrome has an estimated prevalence of 1/200,000. Clinical description The clinical manifestations of ARS are highly variable. Features can be divided into ocular and non-ocular findings. [orpha.net]

Community Dentistry and Oral Epidemiology. 2004;32:217-226. G reen PD, Hjalt TA, Kirk DE, Sutherland LB, Thomas BL, Sharpe PT, et al. Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development. [casereports.in]

Epidemiology Frequency United States Aniridia is rare, occurring in 1.8 per 100,000 live births; 50% of these patients develop glaucoma. [emedicine.medscape.com]

Specifically, the high-resolution mode of the AS-OCT program had improved performance in outlining finer structures such as the distinctive endothelial membrane covering the iris in Axenfeld-Rieger syndrome, which enabled better understanding of the pathophysiology [ncbi.nlm.nih.gov]

Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. Int Ophthalmol. 2018 Feb. 38 (1):409-416. [Medline]. Kargi SH, Koc F, Biglan AW, Davis JS. Visual acuity in children with glaucoma. [emedicine.medscape.com]

Axenfeld syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3] Pathophysiology [ edit ] The molecular genetics of Axenfeld syndrome are poorly understood, but center on three genes [en.wikipedia.org]

Early recognition of dental anomalies aids in detection of the syndrome and prevents progressive loss of vision. This case report discusses the ocular, dental, and craniofacial findings and the overall management of the patient. [ncbi.nlm.nih.gov]

Rieger syndrome, Iridogoniodysgenesis with somatic anomalies, Goniodysgenesis hypodontia, RGS Symptoms - Axenfeld-Rieger syndrome Causes - Axenfeld-Rieger syndrome Prevention - Axenfeld-Rieger syndrome Not supplied. [checkorphan.org]