Ectrodactyly and bilateral cleft lip palate in a 2-year-old boy: a rare case report

Ectrodactyly (lobster claw syndrome) and bilateral cleft lip and palate are distinct congenital anomalies, yet their co-occurrence in a single individual is exceedingly rare, often indicating an underlying syndromic association such as ectrodactyly-ectodermal dysplasia-clefting syndrome. This report describes such an unusual co-presentation, complicated by a strong family history and previous unsuccessful surgical interventions.

A 2-year-old boy had congenital ectrodactyly affecting the hands and feet, and a complete bilateral cleft lip and palate. He presented with significant eating difficulties and velopharyngeal insufficiency secondary to cleft palate after two unsuccessful cleft lip and nose repairs at another hospital. His father also exhibited identical conditions, suggesting a hereditary basis. Genetic testing was not performed due to financial constraints.

The lip-nose defects were corrected using the modified Mulliken technique with closed rhinoplasty. Six months later, primary cleft palate repair was performed via the modified Langenbeck technique, including radical muscle dissection and reconstruction of the levator veli palatini, to optimize velopharyngeal function. This case underscores the importance of thorough primary surgical repair and the potential for successful outcomes in challenging secondary repairs through advanced techniques and multidisciplinary care.

We described a rare and likely hereditary co-occurrence of ectrodactyly and bilateral cleft lip and palate. Despite the complexity arising from previous failed surgeries, a staged, multidisciplinary approach comprising specific reconstructive techniques yielded remarkable functional and esthetic improvements, including complete resolution of hypernasality. Thus, comprehensive, expert care plays a critical role in eliciting optimal results for complex congenital malformations.