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Genetic and Rare Diseases Information Center (GARD)

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Hemifacial microsomia


Other Names for this Disease

  • Craniofacial microsomia
  • First and second branchial arch 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.

Symptoms

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What are the signs and symptoms of hemifacial microsomia?

Individuals with hemifacial microsomia may have varied signs and symptoms, including:[1][2][3][4][5][6][7][8][9]

  • Facial asymmetry;
  • Absence, reduced size (hypoplasia), and/or displacement of the outer ear (pinna) with a variable degree of involvement on one side; occasionally, bilateral anomalous ears are noted;
  • Maxillary, temporal, and malar bones on the involved side are somewhat reduced in size and flattened;
  • Deafness due to middle ear abnormalities and/or absence or deficiency of the external auditory meatus has been noted in 30% to 50% of cases;
  • Presence of  ear tags may occur anywhere from the tragus (small flap of cartilage just in front of the ear canal near the face) to the angle of the mouth;
  • Intraoral deformities include abnormalities (in shape or number) of the teeth or significant delay of tooth development of the affected size;
  • The incidence of delayed tooth development with hemifacial microsomia is proportional to the extent of mandible deformity;
  • About 50% to 70% of patients have narrowed or absence of half of the mandible on the affected side;
  • Associated cleft lip and/or palate is found in 7% of  patients;
  • Reduced size of facial muscles and those of facial expression on the involved side have also been observed;
  • Narrowing of the palpebral fissure occurs on the affected side in about 10% of patients;
  • Abnormalities of the eyes (extremely small or absent) has been reported;
  • Skeletal alterations are other common anomalies including problems of the vertebrae and ribs.
  • The absence of certain cheek muscles or nerves which supply those muscles can result in an asymmetrical smile. Cheek tissue (fat and muscle) is often underdeveloped which makes one side of the face fuller than the other.
Last updated: 9/12/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial microsomia. 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. Hemifacial Microsomia. The National Craniofacial Association. 2011; http://www.faces-cranio.org/Disord/Hemi.htm. Accessed 8/8/2013.
  2. Craniofacial Microsomia. Seattle Children's Hospital Research Foundation. 2013; http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/hemifacial-microsomia/. Accessed 8/8/2013.
  3. Lacombe D. Orphanet. Goldenhar syndrome. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=374. Accessed 8/8/2013.
  4. Murray Je, Kaban LB & Mulliken JB. Analysis and treatment of hemifacial microsomia. Plast Reconst Surg. 1984; http://www.ncbi.nlm.nih.gov/pubmed/6463144. Accessed 8/8/2013.
  5. Hemifacial microsomia. University of California in San Francisco. 2012; http://www.ucsfbenioffchildrens.org/conditions/hemifacial_microsomia/. Accessed 9/12/2012.
  6. Kapur R, Kapur R, Sheikh S, Jindal S & Kulkarni S. Hemifacial microsomia: A case report. J Indian Soc Pedod Prev Dent . 2008; http://www.jisppd.com/article.asp?issn=0970-4388;year=2008;volume=26;issue=5;spage=34;epage=40;aulast=Kapur. Accessed 9/12/2012.
  7. Fan WS. An association between hemifacial microsomia and facial clefting. J Oral Maxillofac Surg. 2005; http://www.ncbi.nlm.nih.gov/pubmed/15742282. Accessed 9/12/2012.
  8. Hemifacial microsomia syndrome. International Craniofacial Institute. 2011; http://www.craniofacial.net/syndromes-hemifacial-microsomia. Accessed 9/12/2012.
  9. Hemifacial Microsomia. Online Mendelian Inheritance in Man (OMIM). 2012; http://omim.org/entry/164210. Accessed 9/12/2012.


Other Names for this Disease
  • Craniofacial microsomia
  • First and second branchial arch 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.