Orofaciodigital Syndrome Vii

Clinical Features

Whelan et al. (1975) reported a mother-daughter pair with oral (tongue nodules, bifid tongue, midline cleft of the lip), facial (hypertelorism, alar hypoplasia), and digital abnormalities (clinodactyly) that shared features of OFDS I (311200) and OFDS II (252100). However, the patients also had hydronephrosis and facial asymmetry. The daughter was also noted to have coarse hair and preauricular skin tags. The daughter had a normal karyotype (46,XX) and the mother was a mosaic (46,XX/46,XX, 18p-).

In a follow-up on the mother and daughter described by Whelan et al. (1975), Nowaczyk et al. (2003) reported that both had developed polycystic kidney disease, which is characteristic of OFDS I. In addition, the daughter had a daughter of her own with central nervous system, oral, and digital anomalies, and linkage studies showed that all 3 shared the same haplotype across the previously identified region to which OFDS I maps. Although Nowaczyk et al. (2003) did not identify any mutations in the OFD1 gene (CXORF5; 300170) in these patients, they concluded that the patients had OFDS I and recommended that OFDS VII be removed from the classification of OFD syndromes.

Inheritance

Whelan et al. (1975) concluded that the pedigree exhibited X-linked dominant inheritance, but Munke et al. (1990) suggested that autosomal dominant inheritance was also possible.