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.
Background
| What are the causes? ![]()