Rare Pulmonology News

Disease Profile

Goldenhar disease

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.

Unknown

Age of onset

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ICD-10

#N/A

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.

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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)

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 central nervous system.[1][2] It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the first and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown.[1][2][3][4] Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Treatment is age-dependent, with interventions at appropriate stages during the growth and development of the skull and face.[3]

Symptoms

The signs and symptoms of Goldenhar disease vary significantly from person to person. Common signs and symptoms of the condition include:[5][6][7]

  • 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 syndrome may also experience hearing loss; hydrocephalus (with or without intellectual disability); heart, kidneys, and lung problems; spinal abnormalities; and/or limb malformations.[5][6][7]

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 corpus callosum
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
Autosomal dominant inheritance
0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Block vertebrae
0003305
Branchial anomaly
0009794
Cleft palate
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
Micrognathia
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
Strabismus
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

The underlying cause of Goldenhar disease is poorly understood. Most cases occur sporadically with no apparent explanation. Some researchers suspect that problems with blood flow or other disruptions during fetal development may contribute to the development of the condition.[5][6]

Approximately 1-2% of affected people have other family members with the condition, which suggests that genes may play a role in some cases.[4][5]

Diagnosis

A diagnosis of Goldenhar disease is based on the presence of characteristic signs and symptoms. These clinical features may be observed on physical examination or may require specialized testing such as imaging studies (i.e. CT scan, X-ray, echocardiogram, ultrasound). Additional testing including certain genetic tests may also be recommended to rule out conditions that are associated with similar features.[3][8]

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    The treatment of Goldenhar disease is based on the signs and symptoms present in each person. Ideally, affected children should be managed by an experienced multidisciplinary craniofacial team. Treatment is age dependent and certain interventions may be recommended at different stages of growth and development.[3][6][8]

    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

        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.
          • 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

            1. Hemifacial Microsomia. Online Mendelian Inheritance in Man (OMIM). October 27, 2014; https://omim.org/entry/164210.
            2. 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.
            3. Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; https://www.ncbi.nlm.nih.gov/books/NBK5199/.
            4. Goldenhar syndrome. Orphanet. March 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=374.
            5. Ted L Tewfik, MD. Manifestations of Craniofacial Syndromes. Medscape Reference. April 2015; https://emedicine.medscape.com/article/844209-overview#a6.
            6. Goldenhar Syndrome. FACES: The National Craniofacial Association. February 2016; https://www.faces-cranio.org/pdf/GOLDENHAR.pdf.
            7. 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;
            8. Oculo-Auriculo-Vertebral Spectrum. NORD. 2007; https://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/.
            9. 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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