Orofaciodigital Syndrome Iii

Clinical Features

Sugarman et al. (1971) reported a new form of oral-facial-digital syndrome in 2 sisters. Features were mental retardation, eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly of hands and feet, pectus excavatum, short sternum, and kyphosis. One of the sibs showed ceaseless 'see-saw winking' of the eyes. The parents were not related. We have observed a family in which 3 of 4 sibs (2 males, 1 female) were affected. None had 'see-saw' winking. However, all had myoclonic jerks, affected lids, extraocular muscles, arms, etc. Hypertelorism, exotropia, irregular teeth, hamartomatous tongue, postaxial polydactyly, and profound mental retardation were features strikingly like those in Sugarman's cases. The sibs showed severe spasticity. One had a macular red spot, leading some to classify the disorder as cerebromacular degeneration (Ford, 1960). Others had suggested Biedl-Bardet syndrome (209900) as the diagnosis, as often happens when the combination of mental retardation and polydactyly is encountered.

Smith and Gardner-Medwin (1993) described a brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome eye movements,' lingual hamartomas, and postaxial polydactyly. Some of the features overlapped with those of OFD syndrome VI (277170) and Joubert syndrome (213300).

Inheritance

Munke et al. (1990) considered the mode of inheritance to be autosomal recessive.