- Goldenhar syndrome
- Facioauriculovertebral sequence
- FAv sequence
- Expanded spectrum of hemifacial microsomia
- Facioauriculovertebral dysplasia
- 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
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.
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.
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.
- Ted L Tewfik, MD. Manifestations of Craniofacial Syndromes. Medscape Reference. April 2015; http://emedicine.medscape.com/article/844209-overview#a6.
- Goldenhar Syndrome. FACES: The National Craniofacial Association. February 2016; http://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; http://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/.