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Wolf-Hirschhorn syndrome

What are the symptoms?

There is a wide variation in the degree of problems seen in this condition. Children with Wolf-Hirschhorn usually have: a low birth weight, slow weight gain, difficulty with feeding and delayed development. They have a small head size for their age (see entry, microcephaly) and most will have epilepsy. Initially, the epilepsy might be difficult to control but in a significant proportion of cases may diminish or even cease as the child gets older. Individuals with Wolf-Hirschhorn tend to have similar facial features. These may include a broad bridge to the nose, wider spaced eyes than average and a small chin. Learning difficulties (see entry Learning Disability) are variable and can be moderate to severe. Wolf Hirschhorn syndrome is caused by a missing section (deletion) of genetic information from the tip of the short arm of chromosome 4. In the past, children whose deletion was too small to be seen with a light microscope were described as having Pitt-Rogers-Danks syndrome. These children are now felt to represent the mild end of the Wolf-Hirschhorn syndrome spectrum.

Children with Wolf-Hirschhorn syndrome may be born with some other congenital problems. The most commonly recognized include: Cleft lip and/or palate, congenital heart disease, (see entry Heart defects), kidney problems (see entry, Kidney disease), eye anomalies such as coloboma, undescended testes and hypospadias.

View Background Background  |  What are the causes? View What are the causes?

Medical text written February 2004 by Dr O Quarrell. Last updated October 2008 by DR O Quarrell, Consultant in Clinical Genetics, Centre for Human Genetics, Sheffield, UK and Dr N Shannon, Consultant in Clinical Genetics, Clinical Genetics Centre, Nottingham, UK

 

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