Otopalatodigital syndrome: radiologic findings in the hand and foot

The craniofacial features of the otopalatodigital syndrome include prominent supraorbital ridge, broad nasal bridge with an appearance suggesting hypertelorism, flattening of the maxilla and malar bones, and sometimes an antimongoloid slant of the palpebral fissures. A midline cleft palate is usually present, though absent in some individuals (mostly females). Deafness is present in some cases but, at least on gross clinical examination, is absent in others. It seems likely that deafness is an acquired feature of the disorder, possibly secondary to mastoid disease associated with cleft palate. The digital findings clinically include short broad thumb and marked shortening of the great toes. Although the stature of many of these individuals is decreased, this finding also is not a necessary part of the syndrome since several of the cases presented were of normal height. The mode of inheritance of the otopalatodigital syndrome is still in doubt. The data are compatible with either X linkage with intermediate expression in female heterozygotes or autosomal dominant inheritance with sex differences in expression. No known affected male has produced offspring of either sex, so there has been no opportunity to observe male to male transmission. The few adult males seen were unmarried so that no conclusions can be made regarding their fertility. It is possible that the trait could be X linked in some kindreds and autosomal in others. The present study is a review of 27 patients belonging to five different families affected with the otopalatodigital syndrome in which hand and foot radiographs were available.