Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)
Cleft lip and/or cleft palate together with ectodermal dysplasia (CLPED1) has been reported in clinical conditions called Zlotogora-Ogur syndrome (Zlotogora, 1994), and the Margarita Island form of ectodermal dysplasia (Bustos et al, 1991). The gene mutated in these autosomal recessive syndromes is identified as PVRL1, located at the chromosomal region 11q23-q24 (Suzuki et al, 2000). PVRL1 encodes nectin-1, a cell adhesion molecule. In both syndromes, the patients have scanty eyebrows and eyelashes, sparse, short and dry scalp hair, syndactyly of the fingers and toes, cleft lip/palate, nail dysplasia, and hypodontia. Hypodontia affects mainly the upper lateral incisors, and in addition, changes in size and shape of tooth crowns (Bustos et al, 1991). Mental retardation is present in Zlotogora-Ogur syndrome but is absent from Margarita Island ectodermal dysplasia (Zlotogora, 1994).
Text 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.