Summary
The Barber Say syndrome is a rare entity described in less than ten patients in the literature. It is characterized by congenital generalized hypertrichosis, unusual face (broad nasal bridge, anteverted nostrils, thin lips), absent or sparse eyebrows and lashes, hypertelorism/telecanthus, macrostomia, bilateral ectropion, misshapen ears, bulbous nose, hyperlaxity and redundancy of the skin, nipple hypoplasia and absence of mamary glands. Teeth are present, but with delayed eruption. In one case parental consanguinity was noted, and in another case mother-to-son transmission, unique example of recurrence of the syndrome in the same family. The mother also had cleft palate and mild conductive hearing loss. Her son had a shawl scrotum, hypospadias, and mild hearing loss. The findings in the different families do not allow to determine whether the mode of inheritance is autosomal recessive, or autosomal dominant, or X-linked dominant. The Barber Say syndrome seems to differ from the ablepharon macrostomia syndrome, but it may derive from a different mutation on the same gene. * Author: Dr E. Robert-Gnansia (January 2004).*
