Wolf-Hirschhorn syndrome (deletion 4p)
Wolf-Hirschhorn syndrome is a malformation syndrome caused by deletions of the distal short arm of chromosome 4 (4p16.3), with variations in both the size of the deletions and position of the breakpoints. It has been suggested that the critical region is approximately 165kb long (Wright et al, 1997). This region has been sequenced intensively during the search for the genes causing Huntington disease, achondroplasia, and other skeletal dysplasias, and is found to be a gene-dense region; the MSX1 gene is located nearby. Wolf-Hirschhorn syndrome is characterized by severe growth and psychomotor retardation, microcephaly, and striking facial features, and closure defects: cleft lip or palate, coloboma of the eye, and cardiac septal defects. About one-third of the patients have an isolated cleft palate, another third high arched palate with micrognathia, and 10% have cleft lip and palate. Agenesis of many permanent teeth has been suggested to belong to the oral manifestations of this syndrome (Burgersdijk et al, 1978). Recently oligodontia was found in five of seven studied Finnish Wolf-Hirschhorn syndrome patients (Nieminen et al, 2003). The pattern of missing teeth resembled closely the phenotype caused by mutations in MSX1. It was shown that the deletion in all patients with oligodontia spanned the MSX1 locus.
Text partially adapted from Sirpa Arte: Phenotypic and genotypic features of familial hypodontia. Dissertation, Institute of Dentistry, University of Helsinki, Finland, 2001.
Text last edited 09.10.2003 by P.N. , page last created 10.12.2004 by P.N.