A rare case report of AEC syndrome, Ankyloblepharon, ectodermal dysplasia and cleft LIP/cleft palate

The AEC syndrome or Hay wells is an unusual autosomal dominant disorder characterised by Ankyloblepharon, Ectodermal dysplasia and Cleft palate and/or lip. This occurs as a result of missense mutation in TP63 affecting P63 SAM the gene, which protein-protein interaction domain. It associated with some irregularities like /Cleft lip, severe scalp erosions abnormalities epidermal appendages including hypotrichosis, hypodontia, absent dystrophic nails & mild hypohydrosis. We, here report case full term baby born to third degree consanguineous parents features cleft lip palate, multiple present over back, alopecia left side along few right scalp, sparse eye brows lashes, Microphallus, Dystrophic finger toe due its rarity. Diagnosis made commonly clinical examination Genetic analysis.