Craniosynostosis Fibular Aplasia

Overview

Type of disease: Rare conditions

Craniosynotosis – Fibular Aplasia is a rare disorder characterized by early fusion of the skull bones and a missing or underdeveloped fibula bone (bone behind the lower leg shin bone). Early fusion of the skull bones can lead to problems with brain development. Hence, individuals with this disorder often may develop intellectual disability. A abnormal fibula bone can lead to severe problems in performing basic tasks, such as walking and running. Individual may also have problems with reasoning and solving problems, as well as performing day-to-day tasks. The disorder is often diagnosed early in childhood, since the symptoms are very apparent. Slow mastering of basic tasks, and having difficulty remembering things may also suggest this disorder in children. Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Doctors may suggest patients undergo surgery to stabilize the fibula bone. Physical therapists may also create exercise plans to help individuals strengthen leg muscles. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

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