Wolf-Hirschhorn syndrome (deletion 4p-syndrome)

The Wolf-Hirschhorn syndrome is caused by the loss of a short arm of one of the chromosomes 4 and is present in one in every 50,000 births. The children are conspicuous due to their extremely low birth weight, microcephaly and typical facial features with widely spaced eyes, eyelids that slant down, broad nose, small jaw, turned-down mouth and ear tags or pits. All children are severely mentally retarded and typically fail to thrive. About 85 per cent of the children suffer from seizures, which are often difficult to treat. There may be the additional presence of a number of different organ malfunctions, particularly in the eyes, the heart, the kidneys and the skeletal system. Heart defects are primarily atrial or ventricular septal defects.Two thirds of the children do not survive their first year of life.

Author(s): Dr Stefanie Weismann-Günzler
Reviewed by: Dr Heide Seidel
Last updated: 2014-03-13