Rieger syndrome


Also found in: Acronyms.

Rie·ger syn·drome

(rē'gĕr), [MIM*180500]
iridocorneal mesenchymal dysgenesis combined with hypodontia or anodontia and maxillary hypoplasia; autosomal dominant; there is a delayed sexual development and hypothyroidism.
See also: Rieger anomaly.

Axenfeld-Rieger syndrome

An autosomal dominant condition (OMIM:180500) characterised by hypodontia, defect of the anterior chamber of the eye, myotonic dystrophy and anal stenosis.

Molecular pathology
Type-1 Axenfield-Rieger syndrome is caused by a mutation in a homeobox transcription factor gene PITX2; a second type of A-R syndrome has a defect that maps to chomosome 14q13, RIEG2.

Rieger syndrome

Neonatology An AR condition characterized by hypodontia, defect of anterior chamber of eye, myotonic dystrophy, anal stenosis

Rie·ger syn·drome

(rē'ger sin'drōm)
Iridocorneal mesenchymal dysgenesis combined with hypodontia or anodontia and maxillary hypoplasia; autosomal dominant; delayed sexual development and hypothyroidism are also characteristic.

Rieger,

Herwigh, German ophthalmologist, 1898-1986.
Rieger anomaly - mesodermal dysgenesis of cornea and iris, producing pupillary anomalies, posterior embryotoxon, and secondary glaucoma. Synonym(s): iridocorneal mesodermal dysgenesis
Rieger syndrome - Rieger anomaly combined with hypodontia or anodontia and maxillary hypoplasia.

Rie·ger syn·drome

(rē'ger sin'drōm) [MIM*180500]
Iridocorneal mesenchymal dysgenesis combined with hypodontia or anodontia and maxillary hypoplasia.
References in periodicals archive ?
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996; 14: 392-99.
Rieger syndrome (RS) is a rare, autosomal dominant condition with almost complete penetrance and variable expressivity.
His facial appearance and his dark coloured eyes suggested Rieger syndrome. He was also using glasses.
Based on information revealed in taking the medical history and clinical findings, he was further referred to an ophthalmologist who reported hypoplasia of the iris stroma and an asymmetric pupil, thereby confirming the tentative diagnosis of Rieger syndrome. His intraocular pressure is now being measured annually, as glaucoma is a common complication in this condition.
His mother suspected a diagnosis of Rieger syndrome in both herself and her son.
Clinical findings were consistent with the orofacial and dental symptoms of Rieger syndrome and the boy was referred to an ophthalmologist.
Dento-facial features may be the first recognizable symptoms of Rieger syndrome. As ocular complications can be prevented with early interventions, it is important that dentists have knowledge about this condition.
The clinical relevance of the findings varies; they may only be descriptive, such as a fissured tongue in Down syndrome, but in other cases missing teeth may represent an important finding in the diagnosis of ectodermal dysplasia, X-linked recessive, incontinentia pigmenti or Rieger syndrome. Brownish or opalescent baby teeth may be the first sign of osteogenesis imperfecta, while freckle-like spots on the lips may indicate intestinal polyposis, as in Peutz Jeghers syndrome.