Ectrodactyly cardiopathy dysmorphism

Ectrodactyly Cardiopathy Dysmorphism (ECD) is a rare genetic disorder characterized by a combination of ectrodactyly, cardiopathy, and craniofacial dysmorphism. Ectrodactyly refers to the congenital absence of one or more central digits on the hands and/or feet, often described as "lobster-claw" deformity. Cardiopathy in the context of ECD involves congenital heart defects that can vary in severity among affected individuals. Craniofacial dysmorphism includes a range of facial abnormalities that can affect the skull's shape, the size and position of the eyes, the structure of the nose and ears, and the overall facial symmetry.

Symptoms and Diagnosis

The primary features of ECD syndrome include the triad of ectrodactyly, cardiopathy, and craniofacial dysmorphism. However, the presentation can vary significantly from one individual to another. Some may have mild manifestations, while others may experience severe and life-threatening complications.

Ectrodactyly manifests as a cleft hand or foot, where there is a central gap between the remaining digits. This can affect one or multiple limbs and can vary in severity.

Cardiopathy in ECD can include a wide range of heart defects, such as ventricular septal defect (VSD), atrial septal defect (ASD), and more complex congenital heart diseases. These conditions can lead to complications like heart failure, arrhythmias, and increased risk of infections.

Craniofacial dysmorphism can involve underdeveloped facial bones, cleft palate or lip, widely spaced eyes (hypertelorism), and other abnormalities that affect the appearance and function of the face and skull.

Diagnosis of ECD is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations associated with the syndrome.

Genetics

ECD is believed to be inherited in an autosomal dominant pattern, which means a single copy of the altered gene in each cell is sufficient to cause the disorder. However, cases have been reported where no family history of the disorder is present, suggesting new mutations or complex inheritance patterns.

Treatment and Management

There is no cure for ECD, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including orthopedic surgeons, cardiologists, plastic surgeons, and other specialists to address the various aspects of the disorder.

Surgical interventions may be necessary to correct limb deformities and improve function. Cardiac anomalies may require medication, monitoring, and potentially surgery to correct or manage heart defects. Craniofacial abnormalities may also be addressed surgically to improve breathing, feeding, and appearance.

Prognosis

The prognosis for individuals with ECD varies depending on the severity of the symptoms and the presence of heart defects. With appropriate medical and surgical management, many individuals can lead active and fulfilling lives.