Neurofaciodigitorenal Syndrome

Freire-Maia et al. (1982) described a 'new' syndrome in 2 brothers with nonconsanguineous parents. Features were mental retardation, highly abnormal EEG without seizures, vertical groove in tip of nose ('bifid' nose), prominent forehead, peculiarly shaped ears, short stature, and triphalangeal thumbs. One of the brothers had unilateral renal agenesis.

Rump et al. (1997) reported a 39-year-old Dutch female with severe mental retardation and unusual facies, including brachycephaly, telecanthus, a grooved nasal tip, ptosis, and malformed ears; she also had broad halluces, congenital heart and renal defects, and an abnormal EEG with petit mal seizures. Features not previously seen in the NFDR syndrome included camptodactyly of the fourth fingers, dysplastic phalanges, ankylosis of the tarsal and metatarsal bones, and dysplastic hips.

Megarbane (2001) reported 2 Lebanese sisters, whose parents were from the same small village, who had upslanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, high-arched palate, mental retardation, and abnormal EEG. The older sister also had double maxillary canines and skeletal anomalies, with partial syndactyly of the right third and fourth fingers, left thumb longer than the right, and genu valgum. Megarbane (2001) noted that the sisters did not have some of the features seen in the patients previously described by Freire-Maia et al. (1982) and Rump et al. (1997), such as hypotonia, abnormal ears, hyperextensible joints, broad halluces, and renal or heart defects, and suggested that this might represent a new autosomal recessive disorder.