Introduction
Wolf-Hirschhorn syndrome (WHS), is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 (del(4p16.3)).
Symptoms
The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects.
Prevalence
1:50’000
Additional Information
http://whs4pminus.co.uk