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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Goldenhar disease


Other Names for this Disease

  • Facioauriculovertebral sequence
  • FAv sequence
  • Goldenhar syndrome
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Symptoms

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What are the signs and symptoms of Goldenhar disease?

The major signs and symptoms of Goldenhar disease are usually only seen on one side of the body. These major features include a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Affected individuals may have a variety of other signs and symptoms involving the ears, eyes, and spine as well as the face, heart, lungs, and central nervous system. The severity of these features can vary greatly among individuals with Goldenhar disease.[1]
Last updated: 11/9/2010

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%
Micrognathia 90%
Preauricular skin tag 90%
Abnormal form of the vertebral bodies 50%
Abnormality of the inner ear 50%
Atresia of the external auditory canal 50%
Cleft palate 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 -
Microphthalmos -
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: 9/2/2014

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. Goldenhar syndrome. Orphanet. February, 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=374. Accessed 11/4/2010.


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