Pavone et al. (1997) described a family with 4 relatives demonstrating broad terminal phalanges of the fingers and toes. The family was ascertained through a proband with multiple congenital anomalies including cleft palate, bifid uvula, gingival hyperplasia, an ... Pavone et al. (1997) described a family with 4 relatives demonstrating broad terminal phalanges of the fingers and toes. The family was ascertained through a proband with multiple congenital anomalies including cleft palate, bifid uvula, gingival hyperplasia, an unusual facial appearance, and mental retardation. The proband had broad distal phalanges of the fingers and toes with partial cutaneous syndactyly of the third, fourth, and fifth fingers. Pitted nails were observed and were more pronounced in the fingers than in the toes. He had an IQ of 50, severe hyperactivity, and a clumsy gait. The 3 members of the pedigree with broad terminal phalanges, other than the proband, were all otherwise unaffected. The pattern of inheritance in this family is most consistent with autosomal dominant transmission. The relationship of the multiple congenital anomalies seen in the proband to the phenotype of broad terminal phalanges was unclear.