Mucometrocolpos is the distention of the uterus and vagina caused by obstruction 
to the drainage of genital secretions. Although most cases of mucometrocolpos 
are sporadic, it may be part of an autosomal recessive condition, known as 
McKusick-Kaufman syndrome (MKS), including postaxial polydactyly and congenital 
heart disease as main findings. The diagnosis may be difficult when the presence 
of additional findings creates an overlap with other syndromes. We report on a 
female infant with mucometrocolpos, postaxial polydactyly, congenital heart 
disease, short limbs, short ribs, and chest constriction. The 
clinicopathological findings are described and discussed in the context of the 
phenotypic spectrums of MKS and mucometrocolpos concomitant with Ellis van 
Creveld syndrome.