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Wolf-Hirschhorn Syndrome (WHS)
Sunday, 27 July 2003
Thursday, 14 July 2005
4p- syndrome, Monosomy 4p


Wolf-Hirschhorn syndrome (WHS) is a rare chromosome disorder characterized by certain facial features described as a “Greek warrior helmet appearance". Children may have developmental delay, mental retardation, seizures, and/or brain, heart, or kidney abnormalities.


Wolf-Hirschhorn syndrome occurs in all ethnicities. Females are affected twice as often as males. WHS occurs in about 1 in 50,000 live births.

Signs and Symptoms

Wolf-Hirschhorn syndrome is present from birth. During the pregnancy, the baby does not grow well. After birth, they continue to have slow growth and low muscle tone. Typical physical features are commonly seen in WHS, but not every child has all of the following features. They may have a small head, widely spaced eyes, crossed-eyes, or ear abnormalities. The bridge of the nose is broad and appears to continue onto the forehead, which is why they are described as having the appearance of a Greek warrior helmet. There may be an opening in the lip or roof of the mouth if they did not join together or close properly (cleft lip or cleft palate). The jaw may be small and the corners of the mouth turn downward. They often have feeding problems. Children do not reach developmental milestones (such as walking and talking) at appropriate ages, and often go on to develop some degree of mental retardation. They may develop seizures. Children may have hearing loss. There may be abnormalities of the brain, bones, heart, or kidneys.

Possible Causes

Wolf-Hirschhorn syndrome is caused by a missing piece (deletion) of chromosome 4. In about 75% of cases, the child is the first person in the family to have WHS caused by a new (or sporadic) genetic mutation. The cause for this genetic change is not known, nor can it be predicted. About 12% of cases have an unusual cytogenetic abnormality (such as a ring chromosome 4), and about 13% of cases inherit a chromosome rearrangement from a parent (translocation). The risk to family members depends on the mechanism of origin of the deletion.


Wolf-Hirschhorn syndrome is diagnosed by the above physical signs found on examination and symptoms exhibited by the child such as developmental delay, feeding difficulties and slow cognitive ability. Genetic testing can confirm the diagnosis.


There is no cure for Wolf-Hirschhorn syndrome. However, it is important for children with WHS to receive specialized therapy focused on motor development, cognition, communication, and social skills. Use of sign language enhances communication skills and does not prevent speech development. Early intervention services and appropriate school placement are essential. The two most worrisome and difficult to manage medical problems are feeding difficulties and seizures.


Unfortunately, it is fairly common for children with Wolf-Hirschhorn syndrome not to survive beyond infancy. Approximately 34% of children die within the first two years of life. If a child does survive past infancy, the average lifespan is not well known. Intelligence is usually affected and they will need life-long care and supervision. Also, these children tend to have seizures that are difficult to control.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


4P- Website
A great site providing support to those affected by WHS around the world.

Wolf-Hirschhorn Support Group UK
A nice website with information about WHS as well as available support.

Chromosome Deletion Outreach, Inc
A website that provides information and support for families affected by chromosome disorders.,com_mpower/dise  A blog for parents with chiildren who have Wolf-Hirschhorn Syndrome,com_mpower/dise   A blog for parents with children who have Wolf-Hirschhorn Syndrome.

Google Search for Wolf-Hirschhorn Syndrome (WHS)

References and Sources McKusick, V. OMIM: Wolf-Hirschhorn Syndrome Gene Reviews: Wolf-Hirschhorn Syndrome eMedicine: Wolf-Hirschhorn Syndrome