Rare Medical News

Disease Profile

Craniofacial microsomia

Prevalence
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.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Summary

Craniofacial microsomia (CFM) includes several conditions characterized by defects that occur when the fetus is forming within the womb of the mother, in structures known as the "first and second brachial arch". These structures will develop to form the neck and the head. The first arches produce the lower jaw, two bones inside the ear, and nerves and muscles for chewing. The second arches give rise to the nerves and muscles of facial expression, one bone in the middle ear, most of the outer ear, and parts of the bone above the larynx (voice box).[1][2][3] Microsomia means abnormal smallness of body structures. CFM findings include differences in the size and shape between the right and left sides of the face (facial asymmetry), small chin and jaw, tissue in front of the ear (preauricular or facial tags); ear malformations such as microtia (small ear), anotia (absence of ear); and hearing loss. Other problems may include cleft lip and/or palate, vertebral, renal (kidney), heart, and limb defects. Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably.[2] These conditions include hemifacial microsomia (when only one side of the face is affected), Goldenhar syndrome (hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids), and others, such as first and second branchial arch syndrome, otomandibular dysostosis, facio-auriculo-vertebral syndrome and lateral facial dysplasia. It is still not been proven whether these diseases are distinct diagnoses or part of the same condition with different degrees of severity. In most cases, CFM is sporadic and the cause is unknown. In other cases, it can be due to a chromosome abnormality or is inherited in an autosomal dominant or recessive pattern. Treatment is age and symptom dependent, addressing each symptom at the appropriate stage of craniofacial growth and development.[3]

References

  1. First and Second Pharyngeal Arch Syndromes. Foundation for Faces of Children. https://facesofchildren.org/First%20and%20Second%20Pharyngeal%20Arch%20Syndromes#A.
  2. Craniofacial microsomia. Genetics Home Reference (GHR). March 2012; https://ghr.nlm.nih.gov/condition/craniofacial-microsomia.
  3. Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; https://www.ncbi.nlm.nih.gov/books/NBK5199/.