Paula and Bobby
Parents of Lillie
Brown (2010) - Deafness - Ear Anomalies - Micrognathia
What is Brown (2010) - Deafness - Ear Anomalies - Micrognathia?
Brown (2010) - Deafness - Ear Anomalies - Micrognathia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Five members in a 3-generation family had dysplasic ears (small, posteriorly rotated, overfolded helix), either sensorineural or conductive deafness, micrognathia and mild retardation (Brown et al., 2010). There was early puberty in 2 and some had a cleft palate. A paracentric inversion of the long arm of chromosome 7 was present in all the affected and the deletion was of 7q21.3. This deletion was just centromeric of DLX5 and DLX6 and the authors suggest a dysregulation of those genes.
* This information is courtesy of the L M D.
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What gene changes cause Brown (2010) - Deafness - Ear Anomalies - Micrognathia?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Brown (2010) - Deafness - Ear Anomalies - Micrognathia?
The typical symptoms of the syndrome are:
How does someone get tested for Brown (2010) - Deafness - Ear Anomalies - Micrognathia?
The initial testing for Brown (2010) - Deafness - Ear Anomalies - Micrognathia can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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