Paula and Bobby
Parents of Lillie
Agnathia Malformation Complex without Holoprosencephaly
What is Agnathia Malformation Complex without Holoprosencephaly?
Agnathia Malformation Complex without Holoprosencephaly is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Please see "Agnathia - holoprosencephaly" for a few other examples
A family reported by Rust et al., (1999) was interesting in that the mother had a small jaw and cleft palate and gave birth to 2 fetusses. The first had an absent mandile, melotia and an imperforate anus. The second fetus had an absent mandible displaced ears (downwards), pulmonary hypertension, a small mouth and retroflexion of the sacrum.
* This information is courtesy of the L M D.
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What gene changes cause Agnathia Malformation Complex without Holoprosencephaly?
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.
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 Agnathia Malformation Complex without Holoprosencephaly?
The typical symptoms of the syndrome are:
How does someone get tested for Agnathia Malformation Complex without Holoprosencephaly?
The initial testing for Agnathia Malformation Complex without Holoprosencephaly 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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