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Disease Profile
Char 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 / 1 000 000
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)
CHAR; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Char
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 | ||
| 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 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Patent ductus arteriosus | 0001643 | |
|
Drooping upper eyelid
|
0000508 | |
| Short philtrum | 0000322 | |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
| Triangular mouth |
Triangular shaped mouth
|
0000207 |
| 30%-79% of people have these symptoms | ||
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Mesoaxial hand |
0006159 | |
| Short middle phalanx of the 5th finger |
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ] |
0004220 |
| 5%-29% of people have these symptoms | ||
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Mesoaxial foot polydactyly |
Central polydactyly of feet
|
0010112 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| No permanent dentition |
Absence of adult teeth
Missing adult teeth
[ more ] |
0008498 |
| Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ] |
0006335 |
| Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Symphalangism of the 5th finger |
Fused little finger bones
Fused pinkie finger bones
Fused pinky finger bones
[ more ] |
0004218 |
| Toe |
Fused toes
Webbed toes
[ more ] |
0001770 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
| Distal/middle symphalangism of 5th finger |
Fused end and middle bones of little finger
Fused end and middle bones of pinkie finger
Fused end and middle bones of pinky finger
[ more ] |
0009244 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Parasomnia | 0025234 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
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.
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Ibuprofen lysine(Brand name: NeoProfen®) Manufactured by Lundbeck Inc.
FDA-approved indication: For closure of a clinically significant patent ductus arteriosus in premature infants weighing between 500 and 1500 g, who are no more than 32 weeks gestational age when usual medical management (e.g., fluid restriction, diuretics, respiratory support, et
National Library of Medicine Drug Information Portal
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Char syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Char syndrome. Click on the link to view a sample search on this topic.
References
- Char syndrome. Genetics Home Reference. June 2008; https://ghr.nlm.nih.gov/condition/char-syndrome. Accessed 9/15/2011.