Paula and Bobby
Parents of Lillie
Ainhum - familial
What is Ainhum - familial?
Ainhum - familial is a rare disease. It is also known as Dactylolysis spontanea Dactylolysisspontanea.
Ainhumpredominantly affects people of West Africa, South America and India.It affects the big toes and sometimes other toes and has as its main features fissures and pain leading to a loss of the digit.Priya et al., (2015) reported a father and son with this condition.
* This information is courtesy of the L M D.
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What gene changes cause Ainhum - familial?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
Sporadic - 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.
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 Ainhum - familial?
The typical symptoms of the syndrome are:
How does someone get tested for Ainhum - familial?
The initial testing for Ainhum - familial 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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