Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies

Clinical Features

Kantaputra et al. (2001) reported 2 daughters of a Thai family with mental retardation, obesity, blepharophimosis, blepharoptosis, hyperopic astigmatism, abducens palsy, cone-shaped epiphyses of toes, maxillary hypoplasia, and mandibular prognathism. Chronic atopic dermatitis was also observed. The authors suggested that these sibs may have a newly recognized autosomal recessive syndrome, which they called MOMES syndrome (mental retardation, obesity, mandibular prognathism with eye and skin anomalies).

Molecular Genetics

Van Haelst et al. (2009) analyzed DNA from the 2 Thai sisters with MOMES syndrome, originally reported by Kantaputra et al. (2001), and identified a 7-Mb deletion of chromosome 4q35.1-qter and a 20-Mb duplication of chromosome 5pter-p14.3 in both sibs. Analysis of paternal DNA revealed that the father was a carrier of a balanced translocation 46,XY,t(4;5)(q35.1;p14.3).