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Disease Profile
Goldenhar disease
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
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ICD-10
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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)
Goldenhar syndrome; Facioauriculovertebral sequence; FAv sequence;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and
Symptoms
- Microtia (a partially formed or completely absent ear) and other ear abnormalities
- Underdeveloped facial muscles which may be associated with weakness
- Underdeveloped jaw, cheekbone and/or temple bone
- Cleft lip and/or palate
- Abnormalities of the eyes, such as anophthalmia/microphthalmia, epibulbar
tumors (noncancerous growths in the eyes), retinal abnormalities, and vision loss - An unusually large or small mouth
- Dental abnormalities
In most cases, only one side of the face is affected, although approximately 10-33% of people with the condition have bilateral (both sides) involvement.[8]
Some people with Goldenhar
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Agenesis of |
0001274 | |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 |
Anotia | 0009892 | |
Arnold-Chiari malformation | 0002308 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Block vertebrae | 0003305 | |
Branchial anomaly | 0009794 | |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Hemifacial hypoplasia |
Decreased size of half of the face
Decreased size of one side of the face
[ more ] |
0011332 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Hydrocephalus |
Too much cerebrospinal fluid in the brain
|
0000238 |
Hypoplasia of facial musculature |
Decreased size of facial muscles
Deficiency of facial musculature
Underdevelopment of facial muscles
[ more ] |
0004660 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Limbal dermoid | 0001140 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Multicystic kidney dysplasia | 0000003 | |
Occipital encephalocele |
Brain tissue sticks out through back of skull
|
0002085 |
Patent ductus arteriosus | 0001643 | |
Preauricular skin tag | 0000384 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Sensorineural hearing impairment | 0000407 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Tetralogy of Fallot | 0001636 | |
Unilateral external ear deformity |
Deformed external ear on one side
|
0008605 |
Upper eyelid coloboma |
Cleft upper eyelid
Notched upper eyelid
[ more ] |
0000636 |
Ureteropelvic junction obstruction | 0000074 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vertebral hypoplasia |
Underdeveloped vertebrae
|
0008417 |
Vesicoureteral reflux | 0000076 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Cause
Approximately 1-2% of affected people have other family members with the condition, which suggests that
Diagnosis
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
The following are examples of medical issues that may need to be addressed in a person affected by Goldenhar disease:[3][6]
- Feeding issues some people affected by Goldenhar
syndrome may have feeding difficulties caused by the associated craniofacial abnormalities. Interventions may include special bottles, supplemental nasogastric feedings, and gastrostomy tube placement. - Breathing problems affected people with an underdeveloped lower jaw may have difficulty breathing or develop sleep apnea. In these cases, referral to appropriate medical specialists is recommended so appropriate care can be provided.
Hearing loss a hearing evaluation is recommended in all children with Goldenhar disease by 6 months of age. In those with hearing impairment, hearing aids or other treatments may be recommended.- Epibulbar
tumors (noncancerous growths in the eyes) these tumors may need to be surgically removed if they are particularly large or interfere with vision. - Craniofacial abnormalities (i.e. cleft lip and/or palate),
congenital heart defects , kidney problems, and/or spine abnormalities some of the characteristic symptoms associated with Goldenhar disease may require surgical repair. - Speech people affected by Goldenhar disease are at an increased risk for a variety of speech problems due to the many associated craniofacial abnormalities. A speech evaluation and/or speech therapy may, therefore, be recommended in some affected people.
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.
Organizations
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
-
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: [email protected]
Website: https://ccakids.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://www.faces-cranio.org/ -
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: [email protected]
Website: https://www.worldcf.org/
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
- FACES: The National Craniofacial Association offers an information page on Goldenhar disease. Please click on the link to access this resource.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Goldenhar disease. Click on the link to view a sample search on this topic.
References
- Hemifacial Microsomia. Online Mendelian Inheritance in Man (OMIM). October 27, 2014; https://omim.org/entry/164210.
- Rollnick BR & Kaye CI. Oculo-auriculo-vertebral anomaly. On: Buyse M.D. Birth Defects Encyclopedia. Center for Birth Defects Information Services. Dover, MA: 1990; 1272-1274.
- Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; https://www.ncbi.nlm.nih.gov/books/NBK5199/.
- Goldenhar syndrome. Orphanet. March 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=374.
- Ted L Tewfik, MD. Manifestations of Craniofacial Syndromes. Medscape Reference. April 2015; https://emedicine.medscape.com/article/844209-overview#a6.
- Goldenhar Syndrome. FACES: The National Craniofacial Association. February 2016; https://www.faces-cranio.org/pdf/GOLDENHAR.pdf.
- Jakobiec FA, Stagner AM, Katowitz WR, Eagle RC Jr. Abnormalities of the eyes, such as droopy eyelids, anophthalmia/microphthalmia, epibulbar tumors (noncancerous growths in the eyes), retinal abnormalities, and vision loss. Surv Ophthalmol. February 2016;
- Oculo-Auriculo-Vertebral Spectrum. NORD. 2007; https://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/.
- Digilio MC et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). AJMG. 15 July 2008;146A(14):1815-1819; https://www.ncbi.nlm.nih.gov/pubmed/18553555.
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