The microcephaly-lymphoedema syndrome: report of an additional family

Fourteen patients from six families have been reported in which microcephaly occurs in conjunction with lymphoedema, with no evidence of mental retardation or serious neurological disabilities. Chorioretinal dysplasia was noted in a small number of affected individuals. Inheritance was either autosomal dominant or X-linked and the question has been raised whether all these cases represent one entity or separate syndromes. We report the 7th family with two affected sibs of different sex. Developmental testing revealed normal to borderline intelligence associated with Attention Deficit Hyperactivity Disorder. The suggested mode of inheritance in this family is autosomal recessive. X-linked dominant inheritance cannot be ruled out, however, since the male was more severely involved than the female. We concur with previous authors that the association of microcephaly and lymphoedema is a distinct genetic syndrome and we propose to name this entity the 'microcephaly-lymphoedema syndrome'.