Syndactyly–Cenani–Lenz type

Syndactyly–Cenani–Lenz type is a rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and abnormalities in the development of the hands and feet. This condition is part of a broader category of disorders known as limb malformations, which affect the growth and development of the limbs during embryonic development. The Syndactyly–Cenani–Lenz type is distinguished by its unique combination of features, including not only the fusion of digits but also the presence of extra digits (polydactyly), malformed or absent bones in the hands and feet, and occasionally, abnormalities in other parts of the body.

Causes and Genetics

The Syndactyly–Cenani–Lenz type is caused by mutations in specific genes that are crucial for limb development during embryogenesis. These mutations disrupt the normal formation and separation of fingers and toes, leading to the characteristic features of the disorder. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.

Symptoms

The primary symptom of Syndactyly–Cenani–Lenz type is the fusion of fingers and toes, which can vary in severity from partial to complete fusion. The disorder may also involve the presence of extra digits, and in some cases, individuals may have malformed or missing bones in the hands and feet. These malformations can lead to significant functional impairments and may require surgical intervention to improve hand and foot function. In addition to limb abnormalities, some individuals with Syndactyly–Cenani–Lenz type may exhibit other physical anomalies, although these are less common.

Diagnosis

Diagnosis of Syndactyly–Cenani–Lenz type typically involves a thorough physical examination and the collection of a detailed family history. Imaging studies, such as X-rays, can be used to assess the extent of bone malformations and digit fusion. Genetic testing may also be conducted to identify mutations in the genes associated with the disorder, confirming the diagnosis.

Treatment

Treatment for Syndactyly–Cenani–Lenz type is primarily surgical and aims to separate fused digits and correct any bone malformations to improve hand and foot function. The timing and specific procedures depend on the severity of the malformations and the individual's overall health. Physical therapy may also be recommended to enhance mobility and function of the affected limbs.

Prognosis

The prognosis for individuals with Syndactyly–Cenani–Lenz type varies depending on the severity of the limb malformations and the success of surgical interventions. With appropriate treatment, most individuals can achieve improved hand and foot function, which significantly enhances their quality of life.

Syndactyly–Cenani–Lenz type Resources
Latest articles Most recent articles Ongoing trials	Wikipedia