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Child having one cheek bigger than the other, MRI denied presence of tumors though is advised MRI biannually. What's the disease?

2 Year old daughter has one cheek that is bigger than the other. Noticed this when she was 3 months old. She seen an ENT when she was 6 months old and they had an MRI done too see if there where any tumors. There werent any but they said she would need more MRI s every six months to make sure. Do you know what this disease is called?
Asked On : Sat, 7 Apr 2012
Answers:  1 Views:  291
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Diseases and Conditions
Pediatrician 's  Response
I think what your daughter has could be called "Hemifacial microsomia" It is caused by a disruption of normal facial development. A baby's face forms very early, normally between the eighth and twelfth weeks of pregnancy. Normal facial development depends on many different tissues growing together. When the movement and development of these tissues is disrupted, the face may have abnormal openings, underdevelopment, and/or excess skin. In hemifacial microsomia, some unknown event disrupts normal development of the first and second branchial arches, the embryonic structures that later develop into the sides of face, the jaw, and the neck.

The possible causes for the embryonic disruption that leads to hemifacial microsomia are unknown. There are most likely many different factors that may lead to the abnormal development of the facial tissues. In some cases, these factors may be environmental. For example, there are certain medications a woman can take while pregnant that can cause the baby to have the symptoms of hemifacial microsomia. However, in the vast majority of cases, hemifacial microsomia is not caused by something taken during pregnancy.

In other cases, normal development of the facial tissues may be disrupted by genetic factors. The exact genetic factors are unknown. Unlike some other syndromes, there has not been a gene identified that, if changed, causes hemifacial microsomia. Studies in a few persons with hemifacial microsomia point to a possible causative genetic difference located on the long arm of chromosome 14; however, as of early 2005, this finding requires further study and characterization.
I hope this answer shade some light into the diagnosis of your daughter.
Answered: Mon, 17 Jun 2013
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