MEDICAL DICTIONARY
Wolf-Hirschhorn syndrome: Abbreviated WHS. A chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is therefore also called the 4p- syndrome.
Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears with a dimple in front of the ear; small and/or asymmetrical head; heart defects; and seizures (that tends to diminish with age).
There is severe to profound developmental and mental retardation. Some patients do learn to walk with or without support and some achieve sphincter control (by day). There is usually very slow progress in development.
Most (nearly 90% of the cases of the syndrome are due to de novo (newly occurring) partial deletions of the short (p) arm of chromosome 4. In the remaining 10% or so of cases, one of the parents has a balanced chromosome rearrangement involving chromosome 4p from which the child's 4p- is derived. Parents of 4p- children should therefore have chromosomes studies themselves.
The syndrome is named for the American Kurt Hirschhorn and German U. Wolf who independently found the 4p- chromosome abnormality in the 1960s.
|
DISCLAIMER:
Information on this site is provided for informational
purposes and is not meant to substitute for the advice
provided by your own physician or other medical professional.
You should not use the information contained herein
for diagnosing or treating a health problem or disease,
or prescribing any medication. You should read carefully
all product packaging. Not all Canadian drugs, Canada
prescription and Canadian prescription medicine is available
at discount Canadian on line pharmacies. If you have
or suspect that you have a medical problem, promptly
contact your health care provider. Information and statements
regarding diet supplements have not been evaluated by
Health Canada and are not intended to diagnose, treat,
cure, or prevent any disease. All trade and service
marks mentioned on this site are recognized as belonging
to their respective owners.
|
|
|
|
