Rare Ophthalmology News
Advertisement
Disease Profile
Ramon 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 >
Age of onset
Infancy
ICD-10
Q87.8
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)
Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth; Gingival fibromatosis combined with cherubism
Categories
Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 3019
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Gingival fibromatosis | 0000169 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Osteolysis |
Breakdown of bone
|
0002797 |
0001250 | ||
30%-79% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
5%-29% of people have these symptoms | ||
Abnormal anterior chamber morphology | 0000593 | |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
0000819 | ||
Hyperkeratosis | 0000962 | |
Sensorineural hearing impairment | 0000407 | |
Telangiectasia of the skin | 0100585 | |
Percent of people who have these symptoms is not available through HPO | ||
Angiokeratoma | 0001014 | |
0000007 | ||
Axenfeld anomaly | 0001492 | |
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
Enlarged labia minora | 0008683 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypertrichosis | 0000998 | |
Juvenile rheumatoid |
0005681 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Optic disc pallor | 0000543 | |
Pigmentary retinopathy | 0000580 | |
0002650 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Telangiectasia | 0001009 |
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 Ramon Syndrome. Click on the link to view a sample search on this topic.