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. The deletion of the LETM1 gene and other nearby genes (including CPLX1) may cause seizures or other abnormal electrical activity in the brain. 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. These genes play significant roles in early development, although many of their specific functions are unknown. NSD2, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. 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. This chromosomal change is sometimes written as 4p. Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms. Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, and genitourinary tract.Ī condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. Seizures tend to disappear with age.Īdditional 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 ). Most affected children also have seizures, which may be resistant to treatment. Compared to people with other forms of intellectual disability, their socialization skills are strong, but verbal communication and language skills tend to be weaker. Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Most children and adults with this disorder also have short stature. Motor skills such as sitting, standing, and walking are significantly delayed. They also have weak muscle tone (hypotonia) and underdeveloped muscles. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). People with Wolf-Hirschhorn syndrome experience delayed growth and development. Additionally, affected individuals may have asymmetrical facial features and an unusually small head ( microcephaly ). 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). This combination is described as a "Greek warrior helmet" appearance. The major features of this disorder include a characteristic facial features, delayed growth and development, intellectual disability, and seizures.Īlmost everyone with this disorder has distinctive facial features, including a broad nasal bridge, large and protruding eyes, and a high forehead. Wolf-Hirschhorn syndrome is a condition that affects many parts of the body.
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