Wolf-Hirschhorn syndrome is due
to a specific chromosomal deletion which is the cause of typical facial
features and developmental delays. The anomalies are due to the lack of
chromosomal material from the top of one of the number 4 chromosomes. This
results in missing genes which account for the anomalies. The degree of
deletions and scope of symptoms vary widely and reflect the amount of genetic
material that is missing.
Some key features ...
Small head size (microcephaly)
"Greek helmet like" nose shape
Wide spaced eyes (hypertelorism)
Mental retardation
Note that in some families the syndrome may be due to an inherited chromosomal
abnormality.
Our Team Recommends ...
Patients and parents undergo chromosome studies since the chromosome deletion
may be due to familiar chromosome anomalies.
Birth Defects Genetics Center - Mobile, Alabama 36688-0002 / 251-460-7500 For questions or comments contact
us or call toll free 1-800-624-1865
Date last changed: April 16, 2003 2:41 PM
http://www.southalabama.edu/genetics
