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Disease Profile
Oculomaxillofacial dysostosis
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.
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Age of onset
Neonatal
ICD-10
Q75.1
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)
Richieri Costa Gorlin syndrome; Oculomaxillofacial dysplasia with oblique facial clefts; Oblique facial clefts
Categories
Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1794
Symptoms
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
Cleft roof of mouth
|
0000175 | |
Corneal opacity | 0007957 | |
Facial cleft |
Cleft of the face
|
0002006 |
Median |
Central cleft upper lip
|
0000161 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Sparse or absent eyelashes | 0200102 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
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 |
5%-29% of people have these symptoms | ||
Abnormality of the humerus | 0003063 | |
Adducted thumb |
Inward turned thumb
|
0001181 |
Aplasia/Hypoplasia affecting the eye |
Absent/small eye
Absent/underdeveloped eye
[ more ] |
0008056 |
Short fingers or toes
|
0001156 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Coloboma |
Notched pupil
|
0000589 |
Deep palmar crease |
Deep palm line
|
0006191 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cleft upper lip |
Harelip
|
0000204 |
Sporadic |
No previous family history
|
0003745 |
Talipes calcaneovalgus | 0001884 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Learn more
These 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.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Oculomaxillofacial dysostosis. Click on the link to view a sample search on this topic.