Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions.
The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. NSD2, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. These genes play significant roles in early development, although many of their specific functions are unknown.
Researchers believe that the loss of the NSD2 gene can cause many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. The deletion of the LETM1 gene and other nearby genes (including CPLX1) may cause seizures or other abnormal electrical activity in the brain. The loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen in people with this condition.
Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome.
","key":"forms","title":"What causes Wolf-Hirschhorn syndrome?"},{"bodyHtml":"Almost everyone with this disorder has distinctive facial features, including a broad nasal bridge, large and protruding eyes, and a high forehead. This combination is described as a "Greek warrior helmet" appearance. Other characteristic facial features include a shortened distance between the nose and upper lip (a short philtrum), a downturned mouth, a small chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of skin (tags). Additionally, affected individuals may have asymmetrical facial features and an unusually small head (microcephaly).
People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, and walking are significantly delayed. Most children and adults with this disorder also have short stature.
Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual disability, their socialization skills are strong, but verbal communication and language skills tend to be weaker. Most affected children also have seizures, which may be resistant to treatment. Seizures tend to disappear with age.
Additional features of Wolf-Hirschhorn syndrome include skin changes, such as mottled or dry skin; skeletal abnormalities, such as abnormal curvature of the spine (scoliosis and kyphosis); dental problems including, missing teeth; and an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, and genitourinary tract.
A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms.
Source: MedlinePlus Genetics
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