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FG Syndrome (Opitz-Kaveggia Syndrome)
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Transcript
FG Syndrome (Opitz-Kaveggia Syndrome)
Ethics
- genetic testing
- genetic counseling
- In Vitro Fertilization
- insurance
Outlook
- 1 out of 3 individuals die in infancy
- premature death is rare after infancy
- long term survival reported
- further research
Characteristics
- intellectual disability
- hyperactive behavior
- imperforate anus
- severe constipation
- severe hypotonia (floppy baby syndrome)
- partial or complete loss of the Corpus Callosum
Diagnosis, Treatment, and In Our Society
Diagnosis
Treatment
- individual treatment
- team of providers
- physical, occupational, and speech therapy
- physical characteristics
- molecular genetic testing
Gene Abnormality
In Our Society
- intolerant of a normal classroom setting
- socialization and daily living skills strong
- verbal communication and language skills weak
MED12 Gene
Proteins
- regulate gene activity
- on/off switch
- development before & after birth
Image by Tom Mooring
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