Rosselli-Gulienetti Syndrome

Clinical Features

Rosselli and Gulienetti (1961) described 4 patients with anhidrosis, hypotrichosis, microdontia, dysplasia of nails, cleft lip and palate, deformity of the fingers and toes, and malformation in the genitourinary system. Popliteal and perineal pterygium was also described. Syndactyly was the predominant digital deformity. Two patients were brother and sister whose parents were second cousins. A family observed by Bowen and Armstrong (1976) had 3 of 10 sibs affected. Bowen and Armstrong (1976) discussed the various syndromes in which ectodermal dysplasia and cleft lip/palate are combined.

Among other syndromes with ectodermal dysplasia, cleft lip/palate, and limb malformations, a few include syndactyly. The dominant EEC syndrome (see 129900) has similar features. Zlotogora (1994) concluded that the presence in the patients of Rosselli and Gulienetti (1961) of dystrophic skin on the face with a tendency to desquamation, aplasia or hypoplasia of the thumb, and popliteal and perineal pterygium distinguished this disorder from that described both as Zlotogora-Ogur syndrome and Margarita island ectodermal dysplasia (225060). Zlotogora (1994) also concluded that the 3 patients reported by Bowen and Armstrong (1976) had a separate disorder because 2 of the patients had adhesion of the eyelids and skin defects.