Year: 2025
Type: article
Study design: Case Report
Abstract: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC syndrome) is a rare genetic disorder caused by mutations in the TP63 gene. It is characterized by a combination of limb malformations (split-hand and split-foot), ectodermal dysplasia (involving hair, nails, skin, and teeth), and cleft lip/palate. We report a case of a full-term male newborn with low birth weight and intrauterine growth restriction who presented with multiple congenital anomalies, including bilateral ectrodactyly, wide unilateral cleft lip and palate, sparse scalp hair, dysplastic nails, reduced dental buds, and mild ophthalmic and genitourinary anomalies. Genetic testing identified a pathogenic TP63 gene variant, confirming the diagnosis of EEC syndrome. EEC syndrome follows an autosomal dominant inheritance pattern with variable expression and requires a multidisciplinary approach for management. This includes dermatological, surgical, dental, and ophthalmological interventions, with a focus on improving the quality of life. Genetic counselling is crucial for affected families to guide future pregnancies and provide emotional and medical support. Early diagnosis and supportive therapies are essential for enhancing the child's quality of life.
Authors: Lakhan Poswal, Mahima Joshi, Ritvika Jyani, Akanksha Sharma, Kapil Sharma
Institution: Rabindranath Tagore Medical College
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410734142