Wolf-Hirschhorn Syndrome (WHS)
Deletions of the short arm of a B group (4-5) chromosome was initially thought to be associated with the cri du chat (cat-cry) syndrome (also known as 5p-). However, patients were noted with many of the characteristics of the syndrome but without the catlike cry. In 1965 Wolf et al. and Hirschhorn et al. published reports showing that there was a syndrome with a deletion on the short arm of the fourth chromosome.
The amount of material deleted may range from about 50% of the short arm to a small break that can't be detected by normal chromosome analysis. In 10-20% of the cases the deletion can occur as a result of a translocated chromosome in the parent.
Because of this wide range of deleted material, the effect on our children varies widely. Some can walk, talk and assist in their daily care while others are not verbal and require constant care. Some are near normal height and weight while others at ages 20-30 weight only 35-50 lbs and are only 45-55 inches tall. The medical involvement also varies from near normal to severe heart and other problems. However, a common trait seems to be that our children are (for the most part) happy, loving children.
Major symptoms may include severe growth and mental retardation, microcephaly, "Greek Helmet" faces, and closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects) and other physical disabilities .
The life expectancy for WHS children is unknown. The oldest member of our group was born in 1949, and several are in their twenties and thirties.
Mark's case being a little different, he doesn't have cardiac issue, but does suffer from kidney issues and seizures. No two kids are alike!
Children's Hospital Boston...This is where we have entrusted the Doctor's and Nurses since Mark's diagnosis at 9 months old.
This website is full of information of the importance of organ donation. Becoming a donor, understanding donation...and much more!
