Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet

Wilson et al. (1989) described the single case of a 2-year-old girl with virtual absence of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and an unusual facial appearance consisting of dystopia canthorum, thickened frenulum giving an appearance of slight median cleft of the upper lip (pseudocleft), and a long, flat philtrum. The patient had 2 unaffected sibs, there was no parental consanguinity, and the karyotype was normal. Some of the features resembled those of OFD I (311200) and OFD II (252100), but the patient lacked cleft, tongue abnormalities, and radiographic irregularities sometimes seen in OFD. Further, OFD patients do not have the severe degree of alopecia that was present in this patient.