National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

CHARGE syndrome

CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality.[1] Signs and symptoms vary among people with this condition; however, infants often have multiple life-threatening medical conditions.[2] The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, mutations in the CHD7 gene cause CHARGE syndrome. When caused by a mutation in the CHD7 gene, it can be inherited in an autosomal dominant pattern; although most cases result from new (de novo) mutations in the gene and occur in people with no history of the condition in their family. Although there is no specific treatment or cure, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.[1][3]
Last updated: 2/16/2017

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.

Showing of 124 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anosmia
Lost smell
0000458
Aplasia/Hypoplasia of the earlobes
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ] 		0009906
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
External ear malformation 0008572
Feeding difficulties in infancy 0008872
Global developmental delay 0001263
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypogonadotropic hypogonadism 0000044
Hypoplasia of the semicircular canal 0011382
Iris coloboma
Cat eye
0000612
Micropenis
Short penis
Small penis
[ more ] 		0000054
Overfolded helix
Overfolded ears
0000396
30%-79% of people have these symptoms
Abnormal aortic valve morphology 0001646
Abnormal cardiac septum morphology 0001671
Abnormal morphology of female internal genitalia 0000008
Abnormal soft palate morphology 0100736
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] 		0000528
Anterior hypopituitarism 0000830
Aortic arch aneurysm 0005113
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Autism 0000717
Bifid scrotum
Cleft of scrotum
0000048
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] 		0000453
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
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
Dimple chin
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ] 		0010751
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Facial palsy
Bell's palsy
0010628
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Interrupted aortic arch 0011611
Labial hypoplasia
Underdeveloped labia
0000066
Low-set, posteriorly rotated ears 0000368
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow face
Decreased breadth of face
Decreased width of face
[ more ] 		0000275
Narrow mouth
Small mouth
0000160
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Obsessive-compulsive behavior
Obsessive compulsive behavior
0000722
Optic atrophy 0000648
Patent ductus arteriosus 0001643
Polyhydramnios
High levels of amniotic fluid
0001561
Postnatal growth retardation
Growth delay as children
0008897
Ptosis
Drooping upper eyelid
0000508
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Tetralogy of Fallot 0001636
5%-29% of people have these symptoms
Abnormality of bone mineral density 0004348
Abnormality of immune system physiology 0010978
Abnormality of the adrenal glands
Adrenal abnormalities
0000834
Abnormality of the ribs
Rib abnormalities
0000772
Abnormality of tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone
[ more ] 		0002992
Abnormality of vision
Abnormality of sight
Vision issue
[ more ] 		0000504
Absent radius
Missing outer large bone of forearm
0003974
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Aqueductal stenosis 0002410
Bifid femur
Notched thighbone
Split thighbone
[ more ] 		0010443
Brachydactyly
Short fingers or toes
0001156
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Dandy-Walker malformation 0001305
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Eyelid coloboma
Cleft eyelid
Notched eyelid
[ more ] 		0000625
Hand monodactyly 0004058
Hemivertebrae
Missing part of vertebrae
0002937
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] 		0002553
Holoprosencephaly 0001360
Horseshoe kidney
Horseshoe kidneys
0000085
Hydronephrosis 0000126
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] 		0010669
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Lacrimation abnormality
Abnormality of tear production
0000632
Laryngomalacia
Softening of voice box tissue
0001601
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Preauricular skin tag 0000384
Respiratory insufficiency
Respiratory impairment
0002093
Scoliosis 0002650
Talipes 0001883
Tracheoesophageal fistula 0002575
Vesicoureteral reflux 0000076
1%-4% of people have these symptoms
Arrhinencephaly 0002139
Percent of people who have these symptoms is not available through HPO
Abnormal palmar dermatoglyphics 0001018
Anal atresia
Absent anus
0002023
Anal stenosis
Narrowing of anal opening
0002025
Aplasia/Hypoplasia of the thymus
Absent/small thymus
Absent/underdeveloped thymus
[ more ] 		0010515
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
Autosomal dominant inheritance 0000006
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears
[ more ] 		0000378
Double outlet right ventricle 0001719
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] 		0200021
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Esophageal atresia
Birth defect in which part of esophagus did not develop
0002032
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Gonadotropin deficiency 0008213
Growth hormone deficiency 0000824
Hand polydactyly
Extra finger
0001161
Hypocalcemia
Low blood calcium levels
0002901
Hypothyroidism
Underactive thyroid
0000821
Lop ear 0000394
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] 		0001888
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Mixed hearing impairment
Hearing loss, mixed
Mixed hearing loss
[ more ] 		0000410
Omphalocele 0001539
Parathyroid hypoplasia
Small parathyroid glands
Underdeveloped parathyroid glands
[ more ] 		0000860
Posterior choanal atresia 0004496
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Retinal coloboma
Hole in the back of the eye
0000480
Short thumb
Short thumbs
Small thumbs
[ more ] 		0009778
Sporadic
No previous family history
0003745
Square face
Square facial shape
0000321
Umbilical hernia 0001537
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Webbed neck
Neck webbing
0000465
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Last updated: 7/1/2020
CHARGE syndrome is caused by mutations in the CHD7 gene in the majority of cases. Almost all mutations in affected individuals are de novo, which means they occur for the first time as new mutations and are not inherited from a parent. However, autosomal dominant inheritance with transmission from parent to child has been reported in rare cases.[3][4][5]

The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression). Most mutations in the CHD7 gene lead to the production of an abnormally short, nonfunctional CHD7 protein, which is thought to disrupt the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome.

About one-third of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene. The cause is unknown in these individuals, but researchers suspect that other genetic and/or environmental factors may be involved.[5]
Last updated: 3/8/2013
CHARGE syndrome is usually not inherited, typically occurring due to a new (de novo) gene mutation in the affected individual. However, rare familial cases inherited in an autosomal dominant manner have been described.

To our knowledge, all individuals who have a CHD7 mutation have some features of CHARGE syndrome (i.e. penetrance is 100%). In rare instances, one parent may have mild features, and the family history may appear to be negative because of failure to recognize the mild features of the condition.

The risk to the siblings of an affected individual depends on the genetic status of the individual's parents. If a parent of an affected child also has CHARGE syndrome, the risk for each sibling to inherit the condition is 50%. If neither parent is affected, the risk to each sibling of an affected child is estimated to be 1%-2%, most likely attributable to germline mosaicism. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing CHD7 mutation has been identified in an affected family member.[3]
Last updated: 3/11/2013
Genetic testing is available for CHARGE syndrome. The CHD7 gene is the only gene in which mutations are known to cause CHARGE syndrome. The CHD7 mutation detection rate when sequence analysis is performed is estimated to be 65%-70% for all typical and suspected cases combined.[3]

GeneTests lists the names of laboratories that are performing clinical genetic testing for CHARGE syndrome. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 3/11/2013

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.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Abruzzo-Erickson syndrome, Kallmann syndrome, 22q11.2 deletion syndrome, VACTERL/VATER association, Kabuki syndrome, renal coloboma syndrome, Cat-eye syndrome, Joubert syndrome, BOR syndrome, 5q11.2 microdeletion syndrome (see these terms) and other chromosomal microdeletion syndromes.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with CHARGE syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for CHARGE syndrome:
    United States Immunodeficiency Network (USIDENT) Registry
     

Support 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

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.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 CHARGE syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a son with CHARGE syndrome and would like to know if he inherited it from a parent or if it's random. Are we carriers of the syndrome, and could it happen again? Can any of my healthy kids also be a carrier causing one of them to have children with the syndrome? See answer


  1. CHARGE syndrome. Genetics Home Reference. February 2017; http://ghr.nlm.nih.gov/condition/charge-syndrome.
  2. Signs and Symptoms. The CHARGE Syndrome Foundation. https://www.chargesyndrome.org/about-charge/signs-symptoms/. Accessed 2/16/2017.
  3. Seema R Lalani, Margaret A Hefner, John W Belmont, and Sandra LH Davenport. CHARGE syndrome. GeneReviews. February 2, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1117/.
  4. Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. May 2011; 48(5):334-342.
  5. CHARGE syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/charge-syndrome. Accessed 3/8/2013.