Paula and Bobby
Parents of Lillie
Amniotic Band Sequence - Eye/brain Anomalies
What is Amniotic Band Sequence - Eye/brain Anomalies?
Amniotic Band Sequence - Eye/brain Anomalies is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This is put as a separate entity, only because this author (MB) is uncertain how amniotic bands cause chorioretinal colobomas, agenesis of the corpus callosum, hydrocephalus and absent septum pellucidum. Such cases are in the literature. The characteristic finger abnormalities are present, and some have facial clefts which involve both upper and lower eyelids. The patient reported by Hashemi et al., (1991) had in addition a chorioretinal coloboma/lacuna, an absent septum pellucidum, partial agenesis of the corpus callosum and hydrocephalus. Ben Ezra and Frucht (1983) reported a case with uveal colobomas and Miller et al., (1987) other cases.
The case reported by Das et al., (2012) had ethmocephaly microphthalmia, and evidence of amniotic bands elewhere - right thumb.
* This information is courtesy of the L M D.
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What gene changes cause Amniotic Band Sequence - Eye/brain Anomalies?
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.
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 Amniotic Band Sequence - Eye/brain Anomalies?
The typical symptoms of the syndrome are:
How does someone get tested for Amniotic Band Sequence - Eye/brain Anomalies?
The initial testing for Amniotic Band Sequence - Eye/brain Anomalies 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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