what is wolfsberger syndrome?

Question

I am not sure of the name. My sister's friend just had a baby and this is what she understood them to tell her was wrong with the new little one.

Answer 1

I can find no reference to such a syndrome either online or in Stedman's Medical Dictionary. Are you sure of the name?

Answer 2

Never heard of it. Are you spelling it right? Could it be Wolf-Hirschhorn syndrome?

This is the only thing I could find with Wolf and syndrome......

WOLF-HIRSCHHORN SYNDROME

Wolf-Hirschhorn syndrome is a rare chromosome disorder affecting approximately 1 in 90,000 births. It is caused by a missing section (deletion) of genetic information from the tip of the short arm of chromosome 4. Chromosomes are rod like structures which store genetic information in the centre of most of our body cells.

There is a wide variation in the degree of problems seen in this condition. Children with Wolf-Hirschhorn have a low birth weight and will usually have slow weight gain and difficulty with feeding. They have a small head size for their age (see entry, microcephaly) and most will have epilepsy. 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. 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 he born with some other congenital problems. The most commonly recognised include: cleft lip and/or palate, congenital heart disease (see entry, heart defects), kidney problems (see entry, Kidney disease), eye anomalies, undescended testes and hypospadias.

Inheritance patterns
Once a child has been diagnosed, the chromosomes of the parents should be checked. In the majority of cases these will be normal indicating that the deletion or rearrangement was present in the egg or sperm cell. In this situation, a couple's chance of having another affected child is low (under one per cent).

In the remaining cases there may be a more complex chromosome rearrangement or translocation which one parent may carry in a balanced form. If this is the case, then the chance of having a second affected child is assessed on an individual basis and in addition, blood tests may be arranged for other family members.