Orofaciodigital Syndrome X

Clinical Features

Figuera et al. (1993) reported a 10-month-old girl with facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula), and digital (oligodactyly, preaxial polydactyly) features supporting the diagnosis of OFD I syndrome (311200). However, the child also had remarkable radial shortening, fibular agenesis and coalescence of tarsal bones not previously described in OFD syndromes. The patient was the third child of healthy unrelated parents, aged 35 (father) and 31 (mother) at the time of her birth. Laboratory examinations and karyotype analysis gave normal results.

Taybi and Lachman (1996) described this condition with mesomelic limb shortening as orofaciodigital syndrome type X.