Paula and Bobby
Parents of Lillie
Burdon (2009) - Cataract - Ectodermal Features - Developmental Delay
What is Burdon (2009) - Cataract - Ectodermal Features - Developmental Delay?
Burdon (2009) - Cataract - Ectodermal Features - Developmental Delay is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Burdon et al., (2009) reported a large indigenous Australian family with early-onset cortical cataracts, developmental delay, sparse thin hair, clinodactyly and an erythematous skin rash most prominent over the trunk and cheeks. Two children had self-harming behaviour. Most were of short stature. Although there was no male to male transmission in this 3-generation family, no linkage to the X-chromosome was found and autosomal inheritance seemed more likely.
* This information is courtesy of the L M D.
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What gene changes cause Burdon (2009) - Cataract - Ectodermal Features - Developmental Delay?
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.
X-Linked Dominant - With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosome males have. Males tend to have more severe symptoms than females.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 Burdon (2009) - Cataract - Ectodermal Features - Developmental Delay?
The typical symptoms of the syndrome are:
How does someone get tested for Burdon (2009) - Cataract - Ectodermal Features - Developmental Delay?
The initial testing for Burdon (2009) - Cataract - Ectodermal Features - Developmental Delay 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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