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Wolf-Hirschhorn syndrome (WHS) is characterized by the association of a distinctive craniofacial phenotype (microcephaly, hypertelorism, prominent glabella, broad and/or beaked nose, short philtrum, micrognathia, downturned corners of the mouth, dysplastic ears, preauricular tags) with mental retardation, seizures, congenital heart defects, and genital and renal anomalies. The estimated prevalence in the general population is 1 in 50 000. The syndrome is caused by a deletion of the band 4p16.3 and this deletion may be submicroscopic. Familial translocation is responsible for 5 -13% of the patients. The remainder of the patients have de novo deletions, usually on the paternal chromosome 4, or de novo translocations (1.6 %). The detection of submicroscopic deletions requires molecular techniques, e.g. microsatellite analysis, or molecular-cytogenetic techniques, e.g. fluorescence in situ hybridisation (FISH). FISH should be performed on samples from the patient and his parents to confirm/exclude translocations. Recurrence risk is low for de novo deletions and translocations, but is considerably higher for familial translocations. Prenatal diagnosis is possible. There is no specific treatment for WHS, however; physiotherapy and occupational therapy are recommended. Patients with congenital heart defects, clubfeet, and cryptorchidism have to be surgically treated and those with seizures need recurrent EEGs and antiepileptic drugs. |