Paula and Bobby
Parents of Lillie
Ankyloglossia Superior - Cleft Palate
What is Ankyloglossia Superior - Cleft Palate?
Ankyloglossia Superior - Cleft Palate is a rare disease. It is also known as Cleft palate - medial synechia syndrome.
See elsewhere for 'cleft palate - lateral synechiae'. This condition refers to a midline band between the dorsum of the tongue and the hard palate. There is also extension of this band to the tip of the tongue which can be bifid. The case reported by Kalu and Moss (2004) had this phenotype. There were feeding difficulties due to the inability to open the mouth.
A similar case was reported by Ogino et al., (2005). The synechia consisted of a cord-like adhesion that stretched in the mid-line from frenulum of the tongue to the rear of the hard palate. A patient with this anomaly had a Moebius spectrum syndrome (Hanhart probably) - Bolling et al., 2007.
* This information is courtesy of the L M D.
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What gene changes cause Ankyloglossia Superior - Cleft Palate?
The syndrome is inherited in the following inheritance pattern/s:
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 Ankyloglossia Superior - Cleft Palate?
The typical symptoms of the syndrome are:
How does someone get tested for Ankyloglossia Superior - Cleft Palate?
The initial testing for Ankyloglossia Superior - Cleft Palate 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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