Paula and Bobby
Parents of Lillie
Balci (2004) - Triangular Face - Cleft Palate - Midface Hypoplasia
What is Balci (2004) - Triangular Face - Cleft Palate - Midface Hypoplasia?
Balci (2004) - Triangular Face - Cleft Palate - Midface Hypoplasia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Balci et al., (2004), reported 2 sibs, a brother and sister, with an almost identical facial 'gestalt', consisting of a triangular face, midface hypoplasia, small jaw but with the lower half of the face thrust forward. Both had a cleft palate and a mild sensorineural hearing loss. They had malocclusion and an open bite. They were of normal intelligence.
* This information is courtesy of the L M D.
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What gene changes cause Balci (2004) - Triangular Face - Cleft Palate - Midface Hypoplasia?
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.
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 Balci (2004) - Triangular Face - Cleft Palate - Midface Hypoplasia?
The typical symptoms of the syndrome are:
How does someone get tested for Balci (2004) - Triangular Face - Cleft Palate - Midface Hypoplasia?
The initial testing for Balci (2004) - Triangular Face - Cleft Palate - Midface Hypoplasia 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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