Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate Syndrome 3 (EEC3) is one of the phenotypes associated with mutations in TP63.
Chromosome: 3q28
Gene: tumor protein 63 (TP63)
Inheritance: autosomal dominant
Findings are typically present at birth.
Clinical features:
(1) limb anomalies (syndactyly, oligodactyly, split-hand/foot malformation = ectrodactyly, duplicate digits)
(2) ectodermal defects
(2a) xerosis without erosions
(2b) hair that is silvery, coarse and dry
(2c) nail dysplasia
(2d) dental anomalies (hypodontia, conical, small occlusal tables)
(2e) hypohidrosis
(3) cleft lip and/or cleft palate
(4) absent lacrimal puncta, resulting in blepharitis, dacrocystitis, keratoconjunctivitis, and photophobia
(5) developmental anomalies of the genitourinary tract, including hypospadias
(6) sparse eyebrows and eyelashes
