AEC syndrome


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Related to AEC syndrome: EEC syndrome

AEC syndrome

ankyloblepharon-ectodermal defects-cleft lip/palate

An autosomal dominant condition (OMIM:106260) characterised by congenital ectodermal dysplasia with sparse coarse and wiry hair, dystrophic nails, slight hypohidrosis, scalp and skin erosion, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia, and cleft lip/palate.

Molecular pathology
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding transcriptional regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge.
References in periodicals archive ?
1997], and another of a permanent molar 'gemini' tooth in a child with AEC syndrome [Macias et al.
Dental care for children with AEC syndrome is optimised by early intervention, good home care and regular professional review.
Psychosocial functioning and quality of life in children and families affected by AEC syndrome.