Cephalopolysyndactyly

Cephalopolysyndactyly is a rare genetic disorder that affects the development of the bones in the skull, fingers, and toes. This condition is characterized by the presence of extra fingers or toes (polydactyly), webbed or fused fingers or toes (syndactyly), and craniofacial abnormalities. The term "cephalopolysyndactyly" combines "cephalo" (referring to the head), "poly" (meaning many), and "syndactyly" (meaning joined fingers or toes), highlighting the main features of the disorder.

Symptoms and Characteristics

The symptoms of cephalopolysyndactyly can vary significantly among affected individuals. Common characteristics include:

• Polydactyly: The presence of extra fingers or toes.
• Syndactyly: The fusion of two or more fingers or toes.
• Craniofacial abnormalities: These may include a high forehead, wide-set eyes, and a flat nasal bridge.
• Cognitive development may be normal or slightly delayed.

Causes

Cephalopolysyndactyly is caused by genetic mutations. The condition is often inherited in an autosomal dominant pattern, which means only one copy of the altered gene in each cell is sufficient to cause the disorder. However, in some cases, the condition may result from new mutations in the gene and occur in people with no family history of the disorder.

Diagnosis

Diagnosis of cephalopolysyndactyly is based on a clinical evaluation, detailed patient history, and identification of characteristic physical findings. Genetic testing can confirm the diagnosis by identifying the specific mutation responsible for the condition.

Treatment

There is no cure for cephalopolysyndactyly, and treatment is symptomatic and supportive. Surgical interventions may be necessary to separate fused digits or to correct other physical abnormalities. Physical therapy and special education services may be beneficial for some individuals to address developmental delays or other cognitive challenges.

Prognosis

The prognosis for individuals with cephalopolysyndactyly varies depending on the severity of the symptoms. With appropriate medical and surgical management, most individuals can lead a normal life. However, they may require ongoing care to address physical and developmental challenges.

Cephalopolysyndactyly Resources
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