Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders. We have evaluated 17 patients with AEC syndrome using a systematic clinical approach. In our study, we have identified new features and others that were thought to occur only rarely. These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far.
Sutton
V Reid
VR
Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA.
Plunkett
Katie
K
Dang
Diane X
DX
Lewis
Richard A
RA
Bree
Alanna F
AF
Bacino
Carlos A
CA
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D015331:Cohort Studies; D019465:Craniofacial Abnormalities / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D005528:Foot / Q000473:pathology; D006225:Hand / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics; D015430:Weight Gain; D055815:Young Adult
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins