Ankyloblepharon, Ectodermal Defects, and Cleft Lip/Palate (AEC) Syndrome is one of the phenotypes associated with mutations in TP63. It includes the Rapp-Hodgkin Syndrome.
Chromosome: 3q28
Gene: tumor protein 63 (TP63)
Inheritance: autosomal dominant
Findings are typically present at birth.
Clinical features:
(1) ankyloblepharon (adhesions between upper and lower eyelids)
(2) absent lacrimal punctata, complicated by chronic conjunctivitis and blepharitis
(3) superficial skin erosions
(4) congenital erythroderma
(5) cutaneous depigmentation and scarring
(6) light-colored hair that is coarse, wiry and brittle, often uncombable
(7) dystrophic nails
(8) micronychia or absent nails
(9) conical teeth with small occlusal tables, or hypodontia
(10) decreased sweating
(11) cleft lip and/or cleft palate
(12) limb anomalies including syndactyly and camptodactyly
(13) hypospadias
(14) facial dysmorphism (maxillary hypoplasia; micrognathia; underdeveloped alae; short philtrum; thin vermilion of the upper lip
(15) trismus
(16) conductive hearing loss
(17) failure to thrive
(18) poor psychological functioning due to poor quality of life
