Radial dysplasia
Radial Dysplasia
Radial dysplasia (pronounced: /ˈreɪdiəl dɪsˈpleɪziə/), also known as radial club hand, is a rare congenital malformation affecting the radius, one of the two long bones of the forearm. The term "dysplasia" originates from the Greek words "dys" meaning bad or difficult, and "plasis" meaning formation.
Definition
Radial dysplasia refers to a spectrum of anomalies that range from mild thumb hypoplasia to complete absence of the radius and thumb. It is often associated with other systemic conditions, such as Fanconi anemia and VACTERL association.
Etiology
The exact cause of radial dysplasia is unknown, but it is believed to be due to a disruption in the normal development of the limb bud during the first trimester of pregnancy. Some cases have been associated with maternal exposure to certain drugs or toxins during pregnancy.
Clinical Features
The most obvious clinical feature is a deformity of the forearm, with the hand deviated towards the radial side. Other features may include shortening of the forearm, absence or underdevelopment of the thumb, and limited range of motion in the wrist and elbow.
Diagnosis
Diagnosis is usually made at birth based on physical examination. Imaging studies such as X-ray and ultrasound can confirm the diagnosis and assess the severity of the condition.
Treatment
Treatment depends on the severity of the condition and may include physical therapy, splinting, and in severe cases, surgery. The goal of treatment is to improve function and appearance of the hand and arm.
Prognosis
The prognosis for individuals with radial dysplasia varies depending on the severity of the condition and the presence of associated anomalies. With appropriate treatment, most individuals can achieve good functional outcomes.
See Also
External links
- Medical encyclopedia article on Radial dysplasia
- Wikipedia's article - Radial dysplasia
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