Hemifacial Microsomia

Common Name(s)

Hemifacial Microsomia

Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. Treatment depends on age and the specific features and symptoms in each person.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemifacial Microsomia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hemifacial Microsomia" returned 13 free, full-text research articles on human participants. First 3 results:

OTX2 duplication is implicated in hemifacial microsomia.
 

Author(s): Dina Zielinski, Barak Markus, Mona Sheikh, Melissa Gymrek, Clement Chu, Marta Zaks, Balaji Srinivasan, Jodi D Hoffman, Dror Aizenbud, Yaniv Erlich

Journal:

 

Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing ...

Last Updated: 12 May 2014

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Health-related quality of life in children with hemifacial microsomia: parent and child perspectives.
 

Author(s): Mary A Khetani, Brent R Collett, Matthew L Speltz, Martha M Werler

Journal: J Dev Behav Pediatr. ;34(9):661-8.

 

To compare health-related quality of life (HRQOL) among children with and without hemifacial microsomia (HFM) as assessed by parents and the children themselves during the elementary school years.

Last Updated: 19 Nov 2013

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Psychosocial outcomes in children with hemifacial microsomia.
 

Author(s): Lynette M Dufton, Matthew L Speltz, Judith P Kelly, Brian Leroux, Brent R Collett, Martha M Werler

Journal: J Pediatr Psychol. 2011 Aug;36(7):794-805.

 

To determine whether children with hemifacial microsomia (HFM) have higher risk for psychosocial problems than children without HFM.

Last Updated: 1 Aug 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hemifacial Microsomia" returned 1 free, full-text review articles on human participants. First 3 results:

Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.
 

Author(s): P Martinelli, G M Maruotti, A Agangi, L L Mazzarelli, G Bifulco, D Paladini

Journal: Ultrasound Obstet Gynecol. 2004 Aug;24(2):199-201.

 

Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation ...

Last Updated: 2 Aug 2004

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)
 

Status: Recruiting

Condition Summary: Craniofacial Microsomia; Hemifacial Microsomia; Oculo-Auriculo-Vertebral-Syndrome; Goldenhar Syndrome; Microtia

 

Last Updated: 21 Aug 2014

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