Wolf Hirschhorn syndrome (WHS), also referred to as chromosome deletion Dillan 4p syndrome, Pitt--Rogers--Danks syndrome (PRDS) or Pitt syndrome, has been first described in 1961 by most Americans Herbert L. Cooper and Kurt Hirschhorn and, afterwards, gained global attention by books by the German Ulrich Wolf, and Hirschhorn and their co-workers, especially their posts in the German scientific journal Humangenetik. It's a characteristic phenotype caused by a partial deletion of chromosomal material of the brief arm of chromosome 4.



Wolf Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

Almost everyone with this disorder has distinctive facial features, including a broad, flat nasal bridge and a high forehead. This combination is described as a "Greek warrior helmet" appearance. The eyes are widely spaced and may be protruding. 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.

Signs and symptoms of Wolf hirschhorn syndrome

The most typical features include a different craniofacial phenotype (microcephaly, micrognathia, brief philtrum, notable glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth limitation, intellectual handicap, muscular hypotonia, seizures, and congenital heart defects. Less common features contain hypospadias, colobomata of their iris, renal anomalies, and deafness. Antibody deficiencies are also common, such as common variable immunodeficiency and IgA deficiency. T-cell immunity is ordinary.



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