Mental Retardation Syndrome, Belgian Type

Fryns et al. (1990) described a family in which 4 (3 males and 1 female) of 12 children from healthy, nonconsanguineous parents had a combination of moderate mental retardation, peculiar craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, diabetes mellitus, and epilepsy. All were investigated as adults. The diabetes was type I beginning in the teens. The craniofacial features included a narrow-based but broad nose with coloboma of the alae nasi, deep-set eyes, and a long face with relative mandibular prognathism.