Female infants usually present with
intraabdominal swelling (hydrometrocolpos) arising from the pelvis. This is
associated with other abnormalities, including imperforate anus, malrotation
of the gut, polydactyly, syndactyly, obesity, and congenital heart disease
(septal defects). Less common features are abnormalities of the upper airway
(larynx), pituitary dysplasia, and developmental delay. Males usually
present with isolated polydactyly, but cryptorchidism and hypospadias have
been described. Ellis van Creveld syndrome may be a phenotype for the male.