Dental and Maxillofacial Characteristics of Six Japanese Individuals with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Abstract

Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

Dentomaxillofacial characteristics of ectodermal dysplasia

“…The maxillary second premolars were the most commonly missing (91.7%), followed by the man- dibular second premolars, maxillary first premolars, mandibular first premolars, maxillary lateral incisors, and maxillary canines, as reported previously (Endo et al 2004;Endo et al 2006 andMuller et al 1970). In contrast, in ectrodactyly-ectodermal dysplasiaclefting syndrome, which is also classified as a disease of ectodermal anomalies with distal limb anomaly, cleft lip and/or palate, lacrimal duct anomalies and severe hypodontia, maxillary lateral incisors, second premolars and mandibular incisors are commonly missing (Komurasaki et al 1997;Okamura et al 2013). These characteristics of the missing teeth distribution might help the differential diagnosis of diversified ectodermal anomalies.…”

“…; Okamura et al. ). These characteristics of the missing teeth distribution might help the differential diagnosis of diversified ectodermal anomalies.…”

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

“…Patient 2 has cutis aplasia on the midline scalp. He also has ectrodactyly of the right hand, which has not been previously reported in patients with 19q13.11 deletions, but can be associated with ectodermal dysplasia in some syndromes [Okamura et al, 2013].…”

Orodental manifestations in ectodermal dysplasia—A review

“…In the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate), enamel hypoplasia was reported in six children, who also had hypodontia and microdontia [Okamura et al, ]. In both RHS and EEC typical oral manifestations include clefts of lip and/or palate, with a clinical overlap to the Hay–Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate), another ED associated with clefting [Fosko et al, ].…”