Axenfeld-Rieger syndrome

Also known as: ARS, Axenfeld and Rieger anomaly, Axenfeld anomaly, Axenfeld syndrome, AXRA, AXRS, Rieger anomaly, Rieger syndrome

Definition

Genetics Home Reference

Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.

About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.

The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.

Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.

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Orphanet

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

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Symptoms

Medical Term Other Names Description
Depressed nasal bridge Concave nasal bridge, Low nasal root, Retruded bridge of nose, Flat nasal bridge, Concave bridge of nose, Retruded nasal bridge, Flat bridge of nose, Depressed bridge of nose, Depressed nasal root/bridge, Depressed nasal root, Flat nasal root, Low nasal bridge, Flattened nasal bridge [more] Posterior positioning of the nasal root in relation to the overall facial profile for age.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Microdontia Hypotrophic tooth, Small tooth, Decreased width of tooth, Small teeth, Decreased size of tooth [more] Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Prominent forehead Protruding forehead, Prominence of frontal region, Pronounced forehead, Bulging forehead [more] Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Ectopia pupillae Displaced pupil, Corectopia A malposition of the pupil owing to a developmental defect of the iris.
Abnormality of cardiovascular system morphology Cardiovascular malformations, Heart defect Any structural anomaly of the heart and great vessels.
Wide nasal bridge Wide bridge of nose, Increased breadth of nasal bridge, Broad nasal root, Increased breadth of bridge of nose, Broad nasal bridge, Widened nasal bridge, Broad flat nasal bridge, Increased width of nasal bridge, Increased width of bridge of nose, Broadened nasal bridge [more] Increased breadth of the nasal bridge (and with it, the nasal root).
Polycoria Multiple pupils Multiple pupils.
Abnormality of the pituitary gland disorder of pituitary gland An anomaly of the pituitary gland.
Oligodontia Missing more than six teeth, Number of teeth decreased by more than six, Failure of development of more than six teeth, Partial anodontia [more] A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
Anterior segment dysgenesis Anterior chamber cleavage defect, Anterior chamber malformation, Anterior segment ocular dysgenesis, Anterior chamber cleavage disorder, Anterior segment mesencyhmal dysgenesis, Anterior chamber mesodermal anomalies [more] Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Abnormal cornea morphology Corneal abnormalities, Abnormality of the cornea, Cornela disease [more] Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
Anal stenosis Narrowing of anal opening Abnormal narrowing of the anal opening.

Other Classifiers and IDs

  • OrphaNet: ORPHA:782
  • MedDRA: 10059255
  • MeSH: C535679
  • UMLS: C3495488
  • OMIM: 180500