Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome is a rare genetic disorder characterized by the combination of three main features: ectrodactyly, which involves the absence or malformation of fingers and toes; ectodermal dysplasia, affecting skin, hair, and teeth; and clefting, which can occur in the lip and/or palate. This condition is caused by mutations in specific genes, often inherited in an autosomal dominant pattern.
Individuals with EEC syndrome may experience a range of symptoms, including difficulty with hand and foot function, dental issues, and challenges related to cleft lip or palate. Diagnosis typically involves clinical evaluation and genetic testing. Management focuses on addressing the individual symptoms and may include surgical interventions, dental care, and supportive therapies.