Facial clefting and oroauditory pathway manifestations in ankyloblepharon–ectodermal defects‐cleft lip/palate (AEC) syndrome

Abstract

Ankyloblepharon–ectodermal defects‐cleft lip/palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as cleft lip and palate, and various secondary issues such as chronic sinusitis, otitis media, and conductive hearing loss (CHL). The International Research Symposium for AEC Syndrome convened at Baylor College of Medicine in Houston, Texas. Patients with a suspected diagnosis of AEC syndrome attended, and members of the dental, dermatology, plastic surgery, otolaryngology, and audiology services examined each patient. Eighteen patients with a diagnosis of AEC were evaluated. Mean age was 7.5 years (range: 4 months–30 years). Fourteen of the 15 subjects tested (93.33%) demonstrated CHL, with seven showing moderate to severe hearing deficits (41–90 dB). Nine of 13 respondents reported hoareness or voice problems; 8 were noted to display this on examination. Fourteen of 16 subjects reported speech was below average for age; 8 were in speech therapy. All 18 subjects reported a history of otitis externa or otitis media. Eleven of the subjects (61.11%) required myringotomy and pressure equalizing (PE) tubes. All patients demonstrated cleft palate defects. Of these, 16 (94.11%) presented with clefting of the soft palate, and 10 (58.82%) showed hard palate defects. Three subjects (16.67%) were noted to have submucous clefts. Our experience leads us to propose that while the oroauditory problems in those with AEC syndrome is likely multifactorial, many issues may stem from palatal clefting. Despite this, some abnormalities persist following surgical cleft closure, which indicates other complicating factors are also involved. © 2009 Wiley‐Liss, Inc.

Genetic and environmental risk factors for submucous cleft palate

“…In a recent study of over 300 patients with VCFS, 77% had a cleft palate and, of these, 68% were either SMCP or occult SMCP (15). In addition, in ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome, 17% of the patients were noted to have SMCPs (34).…”

“…tion, in ankyloblepharon-ectodermal defects-cleft lip/ palate (AEC) syndrome, 17% of the patients were noted to have SMCPs (34). In patients with SMCP as an isolated anomaly the aetiological relationship of the SMCP with other clefts is much less clear.…”

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

“…In a study of over 300 patients with 22q11.2DS, 77% had cleft palate and of these, 68% were a SMCP [Friedman et al, 2011]. In addition, in TP63-associated ankyloblepharonectodermal defects-cleft lip/palate syndrome (AEC syndrome; OMIM#106260), almost all patients have an orofacial cleft of which 17% were noted to have SMCP [Cole et al, 2009]. Notably, either SMCP or CL/P can be seen as part of several syndromes, such as 22q11.2DS, AEC syndrome, and IRF6 or GRHL3-associated van der Woude syndrome (OMIM#119300 and #606713, respectively) [Kondo et al, 2002;Peyrard-Janvid et al, 2014], suggesting that the same genetic cause may contribute to both types of clefting.…”

International Research Symposium on Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate (AEC) Syndrome

“…Reaching beyond the scope of the first conference, participants worked together to examine and systematically document the clinical findings of these patients to develop a uniform, coordinated approach to diagnosis. The results of these subspecialty evaluations are detailed in the subsequent manuscripts [see Bree, 2009;Cole et al, 2009;Dishop et al, 2009;Farrington and Lausten, 2009;Julapalli et al, 2009;Lane et al, 2009;Motil and Fete, 2009;Sutton et al, 2009 in this issue]. Blood, hair, and nail specimens were also obtained for mutational, microscopic, and immunohistochemical evaluation, with these results also presented [see Beaudry et al, 2009;Dishop et al, 2009;Koster et al, 2009;Rinne et al, 2009 this issue].…”

“…This unique research, educational, and patient-oriented symposium began with a day of structured clinical evaluations by multiple subspecialists (Appendix II) in the areas of audiology, dentistry [see Farrington and Lausten, 2009 this issue], dermatology [see Julapalli et al, 2009 this issue], genetics [see Sutton et al, 2009 this issue], growth/nutrition/gastroenterology [see Motil and Fete, 2009 this issue], otorhinolaryngology [see Cole et al, 2009 this issue], ophthalmology, plastic surgery, and psychiatry [see Lane et al, 2009 this issue] to obtain and document clinical history and physical examination findings prospectively. The patients also donated tissue samples, including blood, hair, and skin biopsies [see Beaudry et al, 2009;Dishop et al, 2009;Koster et al, 2009;Rinne et al, 2009 this issue].…”