Ectrodactyly ectrodermal dysplasia

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. This condition is also known by several other names, including EEC syndrome, split hand-split foot-ectodermal dysplasia-cleft syndrome, and cleft hand-cleft foot-ectodermal dysplasia syndrome. EEC syndrome is a complex disorder affecting multiple systems of the body, with symptoms and severity varying significantly among affected individuals.

Etiology and Genetics

EEC syndrome is primarily caused by mutations in the TP63 gene, which plays a crucial role in the development and differentiation of epithelial tissues, limbs, and facial structures during embryonic development. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, cases have been reported where the condition has arisen due to new mutations in the gene and occurred in people with no history of the disorder in their family.

Clinical Features

The hallmark features of EEC syndrome include:

• Ectrodactyly: The presence of split or cleft hands and feet, which may resemble lobster claws. This can affect one or more limbs and varies in severity.
• Ectodermal Dysplasia: Abnormal development of the skin, hair, nails, teeth, and sweat glands. This can lead to sparse hair, abnormal or missing teeth, and issues with temperature regulation due to reduced sweating.
• Facial Clefts: Cleft lip and/or cleft palate, which can affect feeding, speech, and increase the risk of ear infections.

Additional symptoms may include eye abnormalities, hearing loss, and urinary tract malformations. The severity and combination of symptoms can vary widely among individuals with EEC syndrome.

Diagnosis

Diagnosis of EEC syndrome is based on clinical evaluation and the presence of characteristic features. Genetic testing can confirm a diagnosis by identifying mutations in the TP63 gene. Prenatal testing is available for families with a known history of the disorder.

Treatment

There is no cure for EEC syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including dermatologists, dentists, orthopedic surgeons, plastic surgeons, and speech therapists, among others. Surgical interventions may be necessary to correct cleft lip and palate, limb abnormalities, and other physical malformations. Dental care is important for managing dental anomalies, and dermatological treatments can help manage skin and hair issues. Regular follow-up and supportive care are essential to address the various aspects of the disorder as they arise.

Prognosis

The prognosis for individuals with EEC syndrome varies depending on the severity of symptoms and the extent of organ involvement. With appropriate management and supportive care, most individuals can lead a normal life. However, they may face challenges related to their physical abnormalities and require ongoing medical care.