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Disease Profile
Axenfeld-Rieger syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
Q13.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Rieger syndrome; Iridogoniodysgenesis with somatic anomalies; Goniodysgenesis hypodontia
Categories
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;
Summary
Axenfeld-Rieger
Even though Axenfeld-Rieger syndrome is primarily an
There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by
Symptoms
About 50% of people with this syndrome develop
Even though Axenfeld-Rieger syndrome is primarily an eye disorder, people with this syndrome can also have symptoms that affect other parts of the body. These symptoms mostly involve the teeth and facial bones. Symptoms affecting the teeth include cone-shaped teeth (peg-like incisors), missing teeth (oligodontia), small teeth (microdontia), and abnormal spacing of the teeth. Symptoms affecting the facial bones may include an underdeveloped jaw, a protruding lower lip, and widely-spaced eyes. Other symptoms include extra folds of skin around the belly button, heart defects, or other more rare
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal anterior chamber morphology | 0000593 | |
Aplasia/Hypoplasia of the iris |
Absent/small iris
Absent/underdeveloped iris
[ more ] |
0008053 |
Posterior embryotoxon | 0000627 | |
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Glaucoma | 0000501 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
5%-29% of people have these symptoms | ||
Abnormality of the hypothalamus-pituitary axis | 0000864 | |
Anal stenosis |
Narrowing of anal opening
|
0002025 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Hypospadias | 0000047 | |
Microdontia |
Decreased width of tooth
|
0000691 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Abnormality of the abdominal wall | 0004298 | |
Abnormally prominent line of Schwalbe | 0007873 | |
Anal atresia |
Absent anus
|
0002023 |
Aniridia |
Absent iris
|
0000526 |
Anterior chamber synechiae | 0007833 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
0000006 | ||
Blindness | 0000618 | |
Cerebellar vermis hypoplasia | 0001320 | |
Concave nasal ridge |
Boxer's nasal deformity
Boxer's nose deformity
Saddle nose
Ski jump nose
[ more ] |
0011120 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Ectopia pupillae |
Displaced pupil
|
0009918 |
Growth |
0000824 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of the iris |
Underdeveloped iris
|
0007676 |
Inguinal hernia | 0000023 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Megalocornea |
Enlarged cornea
|
0000485 |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Opacification of the corneal stroma | 0007759 | |
Patent ductus arteriosus | 0001643 | |
Polycoria |
Multiple pupils
|
0011500 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Rieger anomaly | 0000558 | |
Sensorineural hearing impairment |
TreatmentIf
If the person has additional findings, treatment will depend on the symptoms present, and may include surgery to correct facial or dental problems, heart surgery, or corrective surgery for the cases of hypospadia. OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
Rare Immunology News |