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Diseases

Genetic and Rare Diseases Information Center (GARD)

Goldenhar disease


Other Names for this Disease
  • Goldenhar syndrome
  • Facioauriculovertebral sequence
  • FAv sequence
  • Expanded spectrum of hemifacial microsomia
  • Facioauriculovertebral dysplasia
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Symptoms

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What are the signs and symptoms of Goldenhar disease?

The signs and symptoms of Goldenhar disease vary significantly from person to person. Common characteristics of the condition include:[1][2][3]
  • 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.[4]

Some affected people may also experience hearing loss; hydrocephalus (with or without intellectual disability); heart, kidneys, and lung problems; spinal abnormalities; and/or limb malformations.[1][2][3]
Last updated: 4/28/2016

The Human Phenotype Ontology provides the following list of signs and symptoms for Goldenhar disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Facial asymmetry 90%
Hearing impairment 90%
Preauricular skin tag 90%
Abnormal form of the vertebral bodies 50%
Abnormality of the inner ear 50%
Abnormality of the middle ear 50%
Atresia of the external auditory canal 50%
Epibulbar dermoid 50%
Low-set, posteriorly rotated ears 50%
Neurological speech impairment 50%
Non-midline cleft lip 50%
Abnormal localization of kidney 7.5%
Abnormality of the pharynx 7.5%
Abnormality of the ribs 7.5%
Aplasia/Hypoplasia affecting the eye 7.5%
Aplasia/Hypoplasia of the corpus callosum 7.5%
Aplasia/Hypoplasia of the lungs 7.5%
Aplasia/Hypoplasia of the thumb 7.5%
Autism 7.5%
Cerebral cortical atrophy 7.5%
Cleft eyelid 7.5%
Cognitive impairment 7.5%
Laryngomalacia 7.5%
Muscular hypotonia 7.5%
Renal hypoplasia/aplasia 7.5%
Scoliosis 7.5%
Short stature 7.5%
Tetralogy of Fallot 7.5%
Tracheoesophageal fistula 7.5%
Tracheomalacia 7.5%
Ventricular septal defect 7.5%
Ventriculomegaly 7.5%
Vertebral segmentation defect 7.5%
Visual impairment 7.5%
Wide mouth 7.5%
Agenesis of corpus callosum -
Anophthalmia -
Anotia -
Arnold-Chiari malformation -
Autosomal dominant inheritance -
Blepharophimosis -
Block vertebrae -
Branchial anomaly -
Cleft upper lip -
Coarctation of aorta -
Conductive hearing impairment -
Ectopic kidney -
Hemivertebrae -
Hydrocephalus -
Hypoplasia of facial musculature -
Hypoplasia of the maxilla -
Intellectual disability -
Malar flattening -
Microphthalmia -
Microtia -
Multicystic kidney dysplasia -
Occipital encephalocele -
Patent ductus arteriosus -
Pulmonary hypoplasia -
Renal agenesis -
Sensorineural hearing impairment -
Strabismus -
Unilateral external ear deformity -
Upper eyelid coloboma -
Ureteropelvic junction obstruction -
Vertebral hypoplasia -
Vesicoureteral reflux -

Last updated: 5/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Ted L Tewfik, MD. Manifestations of Craniofacial Syndromes. Medscape Reference. April 2015; http://emedicine.medscape.com/article/844209-overview#a6.
  2. Goldenhar Syndrome. FACES: The National Craniofacial Association. February 2016; http://www.faces-cranio.org/pdf/GOLDENHAR.pdf.
  3. 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;
  4. Oculo-Auriculo-Vertebral Spectrum. NORD. 2007; http://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/.


Other Names for this Disease
  • Goldenhar syndrome
  • Facioauriculovertebral sequence
  • FAv sequence
  • Expanded spectrum of hemifacial microsomia
  • Facioauriculovertebral dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.