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C-H-A-R-G-E Syndrome: COLOBOMA, CRANIAL NERVE DAMAGE, CARTILAGE ANOMALIES,HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL HYPOPLASIA AND EAR ANOMALIES
or HALL-HITTNER SYNDROME; HHS
Additional problems include:
-Postnatal growth problems
-Cleft lip and/or palate
-DeGeorge sequence (related to immunity problems)
-CHARGE facial features (square shape of the face and head, flat cheekbones, facial asymmetry, wide nose with a high bridge, and unusual ears)
-Tracheo-esophageal fistula (an abnormal connection between the trachea or wind pipe and the esophagus or food pipe)
-Esophageal atresia (the esophagus or food pipe ends in a pouch instead of connecting to the stomach)
Prevalence: at least 1:10,000 births. 20-25% mortality in first two years
I've been out of dental school for about a little over a year now but I don't recall if I ever learned about this syndrome (there were so DARN many!!!!
). Has anyone else heard about it in dental school? However, it does have implications to the head & neck area and I thought it would be interesting to mention on this forum.
Individuals who are afflicted with this syndrome have cranial nerve problems (facial nerve palsy and swallowing problems). The cause of CHARGE is not known. It is not known to be related to illness, exposure to drugs or alcohol during pregnancy, and typically it does not occur to more than one person in a family. It is very rare, and cannot be predicted. However, recent research indicates that it may be a de novo genetic mutation in a dominant gene. I doubt that many of us will encounter this syndrome unless one works in a hospital environment, however, it is quite interesting from a pathological point of view.
The reason why I even read up more about it today was because of an article I saw featured in a newspaper I read this evening. A Montreal ENT doctor has saved the life of an 8 month old baby with CHARGE Syndrome who as a result of overactive saliva glands , was drowning in his own drool. This baby's lungs were filling up with saliva, repeatedly throwing him into respiratory distress.
The doctors had attempted 14 times to remove the breathing tubes and failed. The parents considered withdrawing care completely. A doctor eventually suggested Botox which has been successfully used in older children but never on infants, as a way to paralyse the saliva glands and reduce the saliva secretions. Other docs were skeptical about this but this doc proceeded anyhow. Once the saliva glands were injected with Botox, there was an almost an immediate improvement in the drooling. The doc expects this treatment to work for up to 6 months. The doc says that he has treated other children with excessive drooling problems (resulting from a variety of problems stemming from conditions including cerebral palsy) at the Montreal Children's Hospital.
Adults with MS, Parkinson's and other neurological conditions that can cause excessive drooling have also been treated successfully with Botox.
This particular case was used to showcase the work of a recently opened Montreal clinic for children with saliva management problems. The "Saliva Management Clinic" is a first in Quebec and only the second in Canada.
For more on the diagnostic criteria for CHARGE Syndrome
http://www.chargesyndrome.org/Diagnostic Criteria.htm
or HALL-HITTNER SYNDROME; HHS
Additional problems include:
-Postnatal growth problems
-Cleft lip and/or palate
-DeGeorge sequence (related to immunity problems)
-CHARGE facial features (square shape of the face and head, flat cheekbones, facial asymmetry, wide nose with a high bridge, and unusual ears)
-Tracheo-esophageal fistula (an abnormal connection between the trachea or wind pipe and the esophagus or food pipe)
-Esophageal atresia (the esophagus or food pipe ends in a pouch instead of connecting to the stomach)
Prevalence: at least 1:10,000 births. 20-25% mortality in first two years
I've been out of dental school for about a little over a year now but I don't recall if I ever learned about this syndrome (there were so DARN many!!!!
). Has anyone else heard about it in dental school? However, it does have implications to the head & neck area and I thought it would be interesting to mention on this forum. Individuals who are afflicted with this syndrome have cranial nerve problems (facial nerve palsy and swallowing problems). The cause of CHARGE is not known. It is not known to be related to illness, exposure to drugs or alcohol during pregnancy, and typically it does not occur to more than one person in a family. It is very rare, and cannot be predicted. However, recent research indicates that it may be a de novo genetic mutation in a dominant gene. I doubt that many of us will encounter this syndrome unless one works in a hospital environment, however, it is quite interesting from a pathological point of view.
The reason why I even read up more about it today was because of an article I saw featured in a newspaper I read this evening. A Montreal ENT doctor has saved the life of an 8 month old baby with CHARGE Syndrome who as a result of overactive saliva glands , was drowning in his own drool. This baby's lungs were filling up with saliva, repeatedly throwing him into respiratory distress.
The doctors had attempted 14 times to remove the breathing tubes and failed. The parents considered withdrawing care completely. A doctor eventually suggested Botox which has been successfully used in older children but never on infants, as a way to paralyse the saliva glands and reduce the saliva secretions. Other docs were skeptical about this but this doc proceeded anyhow. Once the saliva glands were injected with Botox, there was an almost an immediate improvement in the drooling. The doc expects this treatment to work for up to 6 months. The doc says that he has treated other children with excessive drooling problems (resulting from a variety of problems stemming from conditions including cerebral palsy) at the Montreal Children's Hospital.
Adults with MS, Parkinson's and other neurological conditions that can cause excessive drooling have also been treated successfully with Botox.
This particular case was used to showcase the work of a recently opened Montreal clinic for children with saliva management problems. The "Saliva Management Clinic" is a first in Quebec and only the second in Canada.
For more on the diagnostic criteria for CHARGE Syndrome
http://www.chargesyndrome.org/Diagnostic Criteria.htm
