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Disease Profile

Char syndrome

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

CHAR; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.[1]

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
Ptosis
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 polydactyly
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 developmental delay
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
Strabismus
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 syndactyly
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
Autosomal dominant inheritance
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
Intellectual disability, mild
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

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

  1. Char syndrome. Genetics Home Reference. June 2008; https://ghr.nlm.nih.gov/condition/char-syndrome. Accessed 9/15/2011.