Rare Rheumatology News
Advertisement
Disease Profile
Hemifacial microsomia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
First and second branchial arch syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
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.[1][2][3] Other findings may include
Symptoms
- Facial asymmetry
- Abnormalities of the outer ear such as absence, reduced size (hypoplasia), and/or displacement
- Small and/or flattened maxillary, temporal, and malar bones
- Deafness due to middle ear abnormalities
- Ear tags
- Abnormalities (in shape or number) of the teeth, or significant delay of tooth development
- Narrowed mandible (jaw) or absence of half of the mandible
- Cleft lip and/or palate
- Reduced size of facial muscles
- Abnormalities of the eyes (extremely small or absent)
- Skeletal abnormalities including problems of the spine or ribs
- Absence of cheeck muscles or nerves supplying those muscles (resulting in an uneven smile)
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Agenesis of |
0001274 | |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 |
Anotia | 0009892 | |
Arnold-Chiari malformation | 0002308 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Block vertebrae | 0003305 | |
Branchial anomaly | 0009794 | |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Hemifacial hypoplasia |
Decreased size of half of the face
Decreased size of one side of the face
[ more ] |
0011332 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of facial musculature |
Decreased size of facial muscles
Deficiency of facial musculature
Underdevelopment of facial muscles
[ more ] |
0004660 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Limbal dermoid | 0001140 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Multicystic kidney dysplasia | 0000003 | |
Occipital encephalocele |
Brain tissue sticks out through back of skull
|
0002085 |
Patent ductus arteriosus | 0001643 | |
Preauricular skin tag | 0000384 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Sensorineural hearing impairment | 0000407 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Tetralogy of Fallot | 0001636 | |
Unilateral external ear deformity |
Deformed external ear on one side
|
0008605 |
Upper eyelid coloboma |
Cleft upper eyelid
Notched upper eyelid
[ more ] |
0000636 |
Ureteropelvic junction obstruction | 0000074 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vertebral hypoplasia |
Underdeveloped vertebrae
|
0008417 |
Vesicoureteral reflux | 0000076 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Cause
Studies have suggested multiple possible
Some possible explanations when the cause of hemifacial microsomia is unknown include a very small
Treatment
Some children need breathing support or a tracheostomy soon after birth if the jaw is severely affected. However in most cases, airway problems can be managed without surgery. Those with a jaw deformity and/or clefts may have feeding problems and may need supplemental feedings through a nasogastric tube to support growth and weight gain. Babies born with cleft lip or palate can have surgical repairs done during the first year.
If eye closure is incomplete due to eyelid abnormalities or facial paralysis is present, a child may need eye protection or surgery. Surgery may also be used for eyelid differences to reposition the lower lids and corners of the eyes. Some children with abnormally shaped or missing ears may choose to have a series of reconstructive surgeries to make the ear appear more normal. Children with skin, cheek and other soft
Because multiple body systems may be involved in hemifacial microsomia, affected people should continually be monitored for complications.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
About Face International
51 Wolseley Street
Toronto, ON M5T 1A4
Canada
Toll-free: 1-800-665-3223
Telephone: +1-416-597-2229
Fax: +1-416-597-8494
E-mail: info@aboutface.ca
Website: https://www.aboutface.ca/ -
American Society for Deaf Children (ASDC)
PO Box 23
Woodbine, MD 21797
Toll-free: 1-800-942-2732
E-mail: info@deafchildren.org
Website: https://deafchildren.org/ -
Ameriface
PO Box 751112
Las Vegas, NV 89136
Toll-free: 888-486-1209
Telephone: 702-769-9264
E-mail: info@ameriface.org
Website: https://www.ameriface.org -
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: https://www.faces-cranio.org/ -
National Association of the Deaf
8630 Fenton Street Suite 820
Silver Spring, MD 20910
Telephone: +1-301-587-1788
TTY: +1-301-587-1789
Fax: +1-301-587-1791
E-mail: NADinfo@nad.org
Website: https://www.nad.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Hemifacial microsomia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
References
- Hemifacial Microsomia. The National Craniofacial Association. 2011; https://www.faces-cranio.org/Disord/Hemi.htm.
- Craniofacial Microsomia. Seattle Children's Hospital Research Foundation. 2013; https://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/hemifacial-microsomia/.
- Hemifacial microsomia (HFM). Foundation for Faces of Children. 2014; https://www.facesofchildren.org/First%20and%20Second%20Pharyngeal%20Arch%20Syndromes.
- Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; https://www.ncbi.nlm.nih.gov/books/NBK5199/.
- Murray Je, Kaban LB & Mulliken JB. Analysis and treatment of hemifacial microsomia. Plast Reconst Surg. 1984; https://www.ncbi.nlm.nih.gov/pubmed/6463144. Accessed 8/8/2013.
- Hemifacial microsomia. University of California in San Francisco. 2012; https://www.ucsfbenioffchildrens.org/conditions/hemifacial_microsomia/. Accessed 9/12/2012.
- Kapur R, Kapur R, Sheikh S, Jindal S & Kulkarni S. Hemifacial microsomia: A case report. J Indian Soc Pedod Prev Dent . 2008; https://www.jisppd.com/article.asp?issn=0970-4388;year=2008;volume=26;issue=5;spage=34;epage=40;aulast=Kapur. Accessed 9/12/2012.
- Fan WS. An association between hemifacial microsomia and facial clefting. J Oral Maxillofac Surg. 2005; https://www.ncbi.nlm.nih.gov/pubmed/15742282. Accessed 9/12/2012.
- Hemifacial microsomia syndrome. International Craniofacial Institute. 2011; https://www.craniofacial.net/syndromes-hemifacial-microsomia. Accessed 9/12/2012.
- Hemifacial Microsomia. Online Mendelian Inheritance in Man (OMIM). 2012; https://omim.org/entry/164210. Accessed 9/12/2012.
- Heike C, Hing A.. Craniofacial Microsomia. GeneReviews. March 19, 2009; https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=m-hfm-ov. Accessed 11/3/2010.
- Craniofacial microsomia. Genetics Home Reference (GHR). March 2012; https://ghr.nlm.nih.gov/condition/craniofacial-microsomia.
- Hemifacial Microsomia. Online Mendelian Inheritance in Man (OMIM). October 27, 2014; https://omim.org/entry/164210.
- Scott Bartlett and Jesse Taylor. Hemifacial Microsomia. Children's Hospital of Philadelphia. February, 2014; https://www.chop.edu/service/plastic-and-reconstructive-surgery/conditions-we-treat/craniofacial-conditions/hemifacial-microsomia.html. Accessed 10/13/2014.
Rare Rheumatology News