Syndrome Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palat (EEC): A Case Report

Abstract

Background: The ectrodactyly–ectodermal dysplasia–cleft lip/palate sequence (EEC) is a rare congenital syndrome with autosomal dominant inheritance, characterized by multiple phenotypic alterations that may affect several body systems. Diagnosis can be established prenatally through ultrasound findings or confirmed by identifying TP63 gene mutations. Early detection is essential for appropriate planning and multidisciplinary management.

Aim: To report a case of a newborn with a prenatal diagnostic hypothesis of EEC syndrome, emphasizing the therapeutic interventions performed and the subsequent clinical evolution.

Methodology:This is a case report of a pregnant woman followed at the Obstetrics and Gynecology Service of the São Francisco na Providência de Deus University Hospital (HUSF), Bragança Paulista, São Paulo, Brazil. Data were collected from medical records and clinical observation. All ethical procedures were followed, including informed consent and approval by the Research Ethics Committee (CAAE: 91857425.7.0000.5514).

Case Report: A 29-year-old pregnant woman received a prenatal diagnostic hypothesis of EEC syndrome at 22 weeks of gestation, with ultrasound findings of polyhydramnios, micrognathia, bilateral cleft lip and palate, and abnormal toes on the left foot. Delivery occurred at 38 weeks and 5 days, with the newborn requiring immediate resuscitation due to respiratory distress secondary to the extensive palatal cleft. The newborn required CPAP for seven days and intensive care monitoring. Postnatal examination confirmed a wide transforamen cleft lip and palate, absence of the nasal floor, retrognathia, moderate laryngomalacia, ectodermal dysplasia, and left-foot ectrodactyly with syndactyly. After clinical stabilization and adequate feeding through a feeding tube, the newborn was discharged with instructions for multidisciplinary follow-up.

Conclusion: EEC syndrome presents wide phenotypic variability and may cause significant clinical repercussions from the neonatal period onward. Early diagnosis enables adequate planning, minimizes complications, and supports targeted interventions for craniofacial and limb malformations. Optimal management requires coordinated multidisciplinary care to promote adequate feeding, growth, and developmental outcomes.